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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: 6-31640838-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31640838&ref=G&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31640838,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001387994.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2888C>G",
"hgvs_p": "p.Pro963Arg",
"transcript": "NM_001387994.1",
"protein_id": "NP_001374923.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3139,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": "ENST00000676615.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2888C>G",
"hgvs_p": "p.Pro963Arg",
"transcript": "ENST00000676615.2",
"protein_id": "ENSP00000502941.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3139,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": "NM_001387994.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2780C>G",
"hgvs_p": "p.Pro927Arg",
"transcript": "ENST00000211379.9",
"protein_id": "ENSP00000211379.5",
"transcript_support_level": 1,
"aa_start": 927,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 3075,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2780C>G",
"hgvs_p": "p.Pro927Arg",
"transcript": "ENST00000375976.8",
"protein_id": "ENSP00000365143.4",
"transcript_support_level": 1,
"aa_start": 927,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 2940,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2702C>G",
"hgvs_p": "p.Pro901Arg",
"transcript": "ENST00000375964.11",
"protein_id": "ENSP00000365131.6",
"transcript_support_level": 1,
"aa_start": 901,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2702,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2997,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2921C>G",
"hgvs_p": "p.Pro974Arg",
"transcript": "ENST00000676571.1",
"protein_id": "ENSP00000504005.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1173,
"cds_start": 2921,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2915C>G",
"hgvs_p": "p.Pro972Arg",
"transcript": "NM_001388012.1",
"protein_id": "NP_001374941.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2915,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2888C>G",
"hgvs_p": "p.Pro963Arg",
"transcript": "NM_001387989.1",
"protein_id": "NP_001374918.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3050,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2888C>G",
"hgvs_p": "p.Pro963Arg",
"transcript": "NM_001387996.1",
"protein_id": "NP_001374925.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3163,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2888C>G",
"hgvs_p": "p.Pro963Arg",
"transcript": "NM_001388011.1",
"protein_id": "NP_001374940.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3045,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2888C>G",
"hgvs_p": "p.Pro963Arg",
"transcript": "NM_001388020.1",
"protein_id": "NP_001374949.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3207,
"cdna_end": null,
"cdna_length": 3911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2885C>G",
"hgvs_p": "p.Pro962Arg",
"transcript": "NM_001387988.1",
"protein_id": "NP_001374917.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3047,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2885C>G",
"hgvs_p": "p.Pro962Arg",
"transcript": "NM_001387993.1",
"protein_id": "NP_001374922.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3136,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2885C>G",
"hgvs_p": "p.Pro962Arg",
"transcript": "NM_001387995.1",
"protein_id": "NP_001374924.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3160,
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"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2885C>G",
"hgvs_p": "p.Pro962Arg",
"transcript": "NM_001388010.1",
"protein_id": "NP_001374939.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2885C>G",
"hgvs_p": "p.Pro962Arg",
"transcript": "NM_001388019.1",
"protein_id": "NP_001374948.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1161,
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"cdna_start": 3204,
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"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2834C>G",
"hgvs_p": "p.Pro945Arg",
"transcript": "NM_001387991.1",
"protein_id": "NP_001374920.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1144,
"cds_start": 2834,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 3085,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2834C>G",
"hgvs_p": "p.Pro945Arg",
"transcript": "NM_001387992.1",
"protein_id": "NP_001374921.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1144,
"cds_start": 2834,
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"cds_length": 3435,
"cdna_start": 3109,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2807C>G",
"hgvs_p": "p.Pro936Arg",
"transcript": "NM_001388009.1",
"protein_id": "NP_001374938.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2807,
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"cdna_start": 2964,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2804C>G",
"hgvs_p": "p.Pro935Arg",
"transcript": "NM_001388008.1",
"protein_id": "NP_001374937.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2804,
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"cds_length": 3405,
"cdna_start": 2961,
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"cdna_length": 3665,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2780C>G",
"hgvs_p": "p.Pro927Arg",
"transcript": "NM_001098534.2",
"protein_id": "NP_001092004.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 2937,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "BAG6",
"gene_hgnc_id": 13919,
"hgvs_c": "c.2780C>G",
"hgvs_p": "p.Pro927Arg",
"transcript": "NM_001387961.1",
"protein_id": "NP_001374890.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 2942,
"cdna_end": null,
"cdna_length": 3646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}