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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-12649932-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12649932&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12649932,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001440570.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2248C>A",
"hgvs_p": "p.Arg750Arg",
"transcript": "NM_000528.4",
"protein_id": "NP_000519.2",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2248,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000456935.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000528.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2248C>A",
"hgvs_p": "p.Arg750Arg",
"transcript": "ENST00000456935.7",
"protein_id": "ENSP00000395473.2",
"transcript_support_level": 1,
"aa_start": 750,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2248,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000528.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456935.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2245C>A",
"hgvs_p": "p.Arg749Arg",
"transcript": "ENST00000221363.9",
"protein_id": "ENSP00000221363.4",
"transcript_support_level": 1,
"aa_start": 749,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2245,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221363.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2296C>A",
"hgvs_p": "p.Arg766Arg",
"transcript": "ENST00000964003.1",
"protein_id": "ENSP00000634062.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2296,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964003.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2251C>A",
"hgvs_p": "p.Arg751Arg",
"transcript": "NM_001440570.1",
"protein_id": "NP_001427499.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2251,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440570.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2251C>A",
"hgvs_p": "p.Arg751Arg",
"transcript": "ENST00000858849.1",
"protein_id": "ENSP00000528908.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2251,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858849.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2245C>A",
"hgvs_p": "p.Arg749Arg",
"transcript": "NM_001173498.2",
"protein_id": "NP_001166969.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2245,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173498.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2242C>A",
"hgvs_p": "p.Arg748Arg",
"transcript": "ENST00000963998.1",
"protein_id": "ENSP00000634057.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2242,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963998.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2236C>A",
"hgvs_p": "p.Arg746Arg",
"transcript": "ENST00000963997.1",
"protein_id": "ENSP00000634056.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2236,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963997.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2215C>A",
"hgvs_p": "p.Arg739Arg",
"transcript": "ENST00000858857.1",
"protein_id": "ENSP00000528916.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2215,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858857.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2197C>A",
"hgvs_p": "p.Arg733Arg",
"transcript": "ENST00000935810.1",
"protein_id": "ENSP00000605869.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 994,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935810.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2182C>A",
"hgvs_p": "p.Arg728Arg",
"transcript": "ENST00000858853.1",
"protein_id": "ENSP00000528912.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 989,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858853.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2179C>A",
"hgvs_p": "p.Arg727Arg",
"transcript": "ENST00000858851.1",
"protein_id": "ENSP00000528910.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 988,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858851.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2179C>A",
"hgvs_p": "p.Arg727Arg",
"transcript": "ENST00000963999.1",
"protein_id": "ENSP00000634058.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 988,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963999.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2248C>A",
"hgvs_p": "p.Arg750Arg",
"transcript": "ENST00000858852.1",
"protein_id": "ENSP00000528911.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 984,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858852.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2134C>A",
"hgvs_p": "p.Arg712Arg",
"transcript": "ENST00000935809.1",
"protein_id": "ENSP00000605868.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 973,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935809.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2131C>A",
"hgvs_p": "p.Arg711Arg",
"transcript": "ENST00000858850.1",
"protein_id": "ENSP00000528909.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 972,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858850.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2251C>A",
"hgvs_p": "p.Arg751Arg",
"transcript": "ENST00000964001.1",
"protein_id": "ENSP00000634060.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 960,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964001.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2248C>A",
"hgvs_p": "p.Arg750Arg",
"transcript": "ENST00000858854.1",
"protein_id": "ENSP00000528913.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 959,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858854.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2062C>A",
"hgvs_p": "p.Arg688Arg",
"transcript": "ENST00000964002.1",
"protein_id": "ENSP00000634061.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 949,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964002.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2032C>A",
"hgvs_p": "p.Arg678Arg",
"transcript": "ENST00000858855.1",
"protein_id": "ENSP00000528914.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 939,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858855.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.1969C>A",
"hgvs_p": "p.Arg657Arg",
"transcript": "ENST00000858856.1",
"protein_id": "ENSP00000528915.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 918,
"cds_start": 1969,
"cds_end": null,
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{
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],
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},
{
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],
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"gene_symbol": "MAN2B1",
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},
{
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],
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"gene_symbol": "MAN2B1",
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},
{
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],
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"gene_symbol": "MAN2B1",
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"hgvs_c": "c.1831-1530C>A",
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"feature": "ENST00000935808.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "MAN2B1",
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"hgvs_c": "n.2838C>A",
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"transcript": "ENST00000466794.5",
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"biotype": "retained_intron",
"feature": "ENST00000466794.5"
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],
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"dbsnp": "rs80338680",
"frequency_reference_population": 0.000008916776,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000891678,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.18000000715255737,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.077,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.18,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001440570.1",
"gene_symbol": "MAN2B1",
"hgnc_id": 6826,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2251C>A",
"hgvs_p": "p.Arg751Arg"
}
],
"clinvar_disease": "Deficiency of alpha-mannosidase",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Deficiency of alpha-mannosidase",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}