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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: 19-12647594-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12647594&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12647594,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_001440570.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2669C>G",
"hgvs_p": "p.Ser890*",
"transcript": "NM_000528.4",
"protein_id": "NP_000519.2",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2669,
"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": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2669C>G",
"hgvs_p": "p.Ser890*",
"transcript": "ENST00000456935.7",
"protein_id": "ENSP00000395473.2",
"transcript_support_level": 1,
"aa_start": 890,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2669,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2666C>G",
"hgvs_p": "p.Ser889*",
"transcript": "ENST00000221363.9",
"protein_id": "ENSP00000221363.4",
"transcript_support_level": 1,
"aa_start": 889,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2666,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269242",
"gene_hgnc_id": null,
"hgvs_c": "n.227C>G",
"hgvs_p": null,
"transcript": "ENST00000597692.1",
"protein_id": "ENSP00000470240.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000597692.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2717C>G",
"hgvs_p": "p.Ser906*",
"transcript": "ENST00000964003.1",
"protein_id": "ENSP00000634062.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2717,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2672C>G",
"hgvs_p": "p.Ser891*",
"transcript": "NM_001440570.1",
"protein_id": "NP_001427499.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2672,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2672C>G",
"hgvs_p": "p.Ser891*",
"transcript": "ENST00000858849.1",
"protein_id": "ENSP00000528908.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2672,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2666C>G",
"hgvs_p": "p.Ser889*",
"transcript": "NM_001173498.2",
"protein_id": "NP_001166969.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2666,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2663C>G",
"hgvs_p": "p.Ser888*",
"transcript": "ENST00000963998.1",
"protein_id": "ENSP00000634057.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2663,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2657C>G",
"hgvs_p": "p.Ser886*",
"transcript": "ENST00000963997.1",
"protein_id": "ENSP00000634056.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2657,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2636C>G",
"hgvs_p": "p.Ser879*",
"transcript": "ENST00000858857.1",
"protein_id": "ENSP00000528916.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2636,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2618C>G",
"hgvs_p": "p.Ser873*",
"transcript": "ENST00000935810.1",
"protein_id": "ENSP00000605869.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 994,
"cds_start": 2618,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2603C>G",
"hgvs_p": "p.Ser868*",
"transcript": "ENST00000858853.1",
"protein_id": "ENSP00000528912.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 989,
"cds_start": 2603,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2600C>G",
"hgvs_p": "p.Ser867*",
"transcript": "ENST00000858851.1",
"protein_id": "ENSP00000528910.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 988,
"cds_start": 2600,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2600C>G",
"hgvs_p": "p.Ser867*",
"transcript": "ENST00000963999.1",
"protein_id": "ENSP00000634058.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 988,
"cds_start": 2600,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2588C>G",
"hgvs_p": "p.Ser863*",
"transcript": "ENST00000858852.1",
"protein_id": "ENSP00000528911.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 984,
"cds_start": 2588,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2567C>G",
"hgvs_p": "p.Ser856*",
"transcript": "ENST00000935811.1",
"protein_id": "ENSP00000605870.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 977,
"cds_start": 2567,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935811.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2555C>G",
"hgvs_p": "p.Ser852*",
"transcript": "ENST00000935809.1",
"protein_id": "ENSP00000605868.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 973,
"cds_start": 2555,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2552C>G",
"hgvs_p": "p.Ser851*",
"transcript": "ENST00000858850.1",
"protein_id": "ENSP00000528909.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 972,
"cds_start": 2552,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2483C>G",
"hgvs_p": "p.Ser828*",
"transcript": "ENST00000964002.1",
"protein_id": "ENSP00000634061.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 949,
"cds_start": 2483,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2453C>G",
"hgvs_p": "p.Ser818*",
"transcript": "ENST00000858855.1",
"protein_id": "ENSP00000528914.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 939,
"cds_start": 2453,
"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": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B1",
"gene_hgnc_id": 6826,
"hgvs_c": "c.2390C>G",
"hgvs_p": "p.Ser797*",
"transcript": "ENST00000858856.1",
"protein_id": "ENSP00000528915.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 918,
"cds_start": 2390,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
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],
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"computational_score_selected": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.036,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001440570.1",
"gene_symbol": "MAN2B1",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 14,
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"criteria": [
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"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000597692.1",
"gene_symbol": "ENSG00000269242",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "n.227C>G",
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}
],
"clinvar_disease": "Deficiency of alpha-mannosidase",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Deficiency of alpha-mannosidase",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}