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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: 3-27394592-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27394592&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 27394592,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001321103.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3043C>T",
"hgvs_p": "p.Arg1015Cys",
"transcript": "NM_001321103.2",
"protein_id": "NP_001308032.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 3301,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": "ENST00000454389.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3043C>T",
"hgvs_p": "p.Arg1015Cys",
"transcript": "ENST00000454389.6",
"protein_id": "ENSP00000390394.1",
"transcript_support_level": 1,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 3301,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": "NM_001321103.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3004C>T",
"hgvs_p": "p.Arg1002Cys",
"transcript": "ENST00000440156.5",
"protein_id": "ENSP00000414797.1",
"transcript_support_level": 1,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3225,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3016C>T",
"hgvs_p": "p.Arg1006Cys",
"transcript": "ENST00000295736.9",
"protein_id": "ENSP00000295736.5",
"transcript_support_level": 1,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3016,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3004C>T",
"hgvs_p": "p.Arg1002Cys",
"transcript": "ENST00000445684.5",
"protein_id": "ENSP00000406804.1",
"transcript_support_level": 1,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3274,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Arg998Cys",
"transcript": "ENST00000446700.5",
"protein_id": "ENSP00000406605.1",
"transcript_support_level": 1,
"aa_start": 998,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3213,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2659C>T",
"hgvs_p": "p.Arg887Cys",
"transcript": "ENST00000455077.5",
"protein_id": "ENSP00000407382.1",
"transcript_support_level": 1,
"aa_start": 887,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2659,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2659C>T",
"hgvs_p": "p.Arg887Cys",
"transcript": "ENST00000437179.5",
"protein_id": "ENSP00000394252.1",
"transcript_support_level": 1,
"aa_start": 887,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2659,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2644C>T",
"hgvs_p": "p.Arg882Cys",
"transcript": "ENST00000428386.5",
"protein_id": "ENSP00000416368.1",
"transcript_support_level": 1,
"aa_start": 882,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557Cys",
"transcript": "ENST00000419036.5",
"protein_id": "ENSP00000411031.1",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 801,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 6447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1092C>T",
"hgvs_p": null,
"transcript": "ENST00000437266.5",
"protein_id": "ENSP00000409418.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1092C>T",
"hgvs_p": null,
"transcript": "ENST00000438530.5",
"protein_id": "ENSP00000407304.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1092C>T",
"hgvs_p": null,
"transcript": "ENST00000457377.5",
"protein_id": "ENSP00000408323.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1092C>T",
"hgvs_p": null,
"transcript": "ENST00000437266.5",
"protein_id": "ENSP00000409418.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1092C>T",
"hgvs_p": null,
"transcript": "ENST00000438530.5",
"protein_id": "ENSP00000407304.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1092C>T",
"hgvs_p": null,
"transcript": "ENST00000457377.5",
"protein_id": "ENSP00000408323.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3004C>T",
"hgvs_p": "p.Arg1002Cys",
"transcript": "NM_001321104.2",
"protein_id": "NP_001308033.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3262,
"cdna_end": null,
"cdna_length": 8040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3016C>T",
"hgvs_p": "p.Arg1006Cys",
"transcript": "NM_003615.5",
"protein_id": "NP_003606.3",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3016,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 7781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3004C>T",
"hgvs_p": "p.Arg1002Cys",
"transcript": "NM_001321105.2",
"protein_id": "NP_001308034.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3262,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Arg998Cys",
"transcript": "NM_001321106.2",
"protein_id": "NP_001308035.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3250,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2671C>T",
"hgvs_p": "p.Arg891Cys",
"transcript": "NM_001321108.2",
"protein_id": "NP_001308037.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2671,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 2929,
"cdna_end": null,
"cdna_length": 7707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2659C>T",
"hgvs_p": "p.Arg887Cys",
"transcript": "NM_001258379.2",
"protein_id": "NP_001245308.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2659,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 2917,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"phenotype_combined": "not specified",
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}
],
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}