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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: 9-71866902-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=71866902&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 71866902,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016014.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "NM_001025780.3",
"protein_id": "NP_001020951.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": "ENST00000333421.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025780.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000333421.7",
"protein_id": "ENSP00000330222.6",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": "NM_001025780.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333421.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000377041.6",
"protein_id": "ENSP00000366240.2",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 293,
"cds_start": 752,
"cds_end": null,
"cds_length": 882,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377041.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "NM_016014.4",
"protein_id": "NP_057098.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 293,
"cds_start": 752,
"cds_end": null,
"cds_length": 882,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016014.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000860588.1",
"protein_id": "ENSP00000530647.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860588.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000860589.1",
"protein_id": "ENSP00000530648.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860589.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000860590.1",
"protein_id": "ENSP00000530649.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860590.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000860591.1",
"protein_id": "ENSP00000530650.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 3336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860591.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000860592.1",
"protein_id": "ENSP00000530651.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860592.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000860593.1",
"protein_id": "ENSP00000530652.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860593.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000860594.1",
"protein_id": "ENSP00000530653.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860594.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000860595.1",
"protein_id": "ENSP00000530654.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
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"cds_length": 867,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860595.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000860598.1",
"protein_id": "ENSP00000530657.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
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"cds_length": 867,
"cdna_start": 792,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000860598.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000860599.1",
"protein_id": "ENSP00000530658.1",
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"aa_start": 251,
"aa_end": null,
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"cds_start": 752,
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"cdna_start": 1096,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860599.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000860600.1",
"protein_id": "ENSP00000530659.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
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"cdna_start": 907,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000860600.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000930684.1",
"protein_id": "ENSP00000600743.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
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"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930684.1"
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000930686.1",
"protein_id": "ENSP00000600745.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
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"cdna_start": 886,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930686.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000930687.1",
"protein_id": "ENSP00000600746.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
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"cdna_start": 842,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000930687.1"
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000930688.1",
"protein_id": "ENSP00000600747.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
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"cdna_start": 859,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930688.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000945710.1",
"protein_id": "ENSP00000615769.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 752,
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"cdna_start": 1610,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945710.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000945711.1",
"protein_id": "ENSP00000615770.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945711.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.752A>G",
"hgvs_p": "p.Gln251Arg",
"transcript": "ENST00000945712.1",
"protein_id": "ENSP00000615771.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 752,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}