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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: 9-131513243-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131513243&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131513243,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000402686.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Gln363Glu",
"transcript": "NM_001077365.2",
"protein_id": "NP_001070833.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 725,
"cds_start": 1087,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": "ENST00000402686.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Gln363Glu",
"transcript": "ENST00000402686.8",
"protein_id": "ENSP00000385797.4",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 725,
"cds_start": 1087,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": "NM_001077365.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1153C>G",
"hgvs_p": "p.Gln385Glu",
"transcript": "ENST00000372228.9",
"protein_id": "ENSP00000361302.3",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 747,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1144C>G",
"hgvs_p": "p.Gln382Glu",
"transcript": "ENST00000423007.6",
"protein_id": "ENSP00000404119.2",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 744,
"cds_start": 1144,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1153C>G",
"hgvs_p": "p.Gln385Glu",
"transcript": "NM_001353193.2",
"protein_id": "NP_001340122.2",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 747,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1153C>G",
"hgvs_p": "p.Gln385Glu",
"transcript": "NM_007171.4",
"protein_id": "NP_009102.4",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 747,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Gln363Glu",
"transcript": "NM_001136113.2",
"protein_id": "NP_001129585.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 725,
"cds_start": 1087,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Gln363Glu",
"transcript": "ENST00000676640.1",
"protein_id": "ENSP00000503281.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 725,
"cds_start": 1087,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1075C>G",
"hgvs_p": "p.Gln359Glu",
"transcript": "NM_001374689.1",
"protein_id": "NP_001361618.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 721,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Gln333Glu",
"transcript": "NM_001353196.2",
"protein_id": "NP_001340125.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 695,
"cds_start": 997,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Gln333Glu",
"transcript": "ENST00000678303.1",
"protein_id": "ENSP00000503696.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 695,
"cds_start": 997,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.991C>G",
"hgvs_p": "p.Gln331Glu",
"transcript": "NM_001353197.2",
"protein_id": "NP_001340126.2",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 693,
"cds_start": 991,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.991C>G",
"hgvs_p": "p.Gln331Glu",
"transcript": "NM_001353198.2",
"protein_id": "NP_001340127.2",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 693,
"cds_start": 991,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.925C>G",
"hgvs_p": "p.Gln309Glu",
"transcript": "NM_001077366.2",
"protein_id": "NP_001070834.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 671,
"cds_start": 925,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.925C>G",
"hgvs_p": "p.Gln309Glu",
"transcript": "NM_001353194.2",
"protein_id": "NP_001340123.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 671,
"cds_start": 925,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.925C>G",
"hgvs_p": "p.Gln309Glu",
"transcript": "ENST00000341012.13",
"protein_id": "ENSP00000343034.7",
"transcript_support_level": 2,
"aa_start": 309,
"aa_end": null,
"aa_length": 671,
"cds_start": 925,
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"cds_length": 2016,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Gln363Glu",
"transcript": "NM_001374690.1",
"protein_id": "NP_001361619.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 652,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.802C>G",
"hgvs_p": "p.Gln268Glu",
"transcript": "NM_001353199.2",
"protein_id": "NP_001340128.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 630,
"cds_start": 802,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.736C>G",
"hgvs_p": "p.Gln246Glu",
"transcript": "NM_001136114.2",
"protein_id": "NP_001129586.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 608,
"cds_start": 736,
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"cdna_start": 1014,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.736C>G",
"hgvs_p": "p.Gln246Glu",
"transcript": "NM_001353195.2",
"protein_id": "NP_001340124.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 608,
"cds_start": 736,
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"cdna_start": 1166,
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"cdna_length": 2950,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.736C>G",
"hgvs_p": "p.Gln246Glu",
"transcript": "NM_001374691.1",
"protein_id": "NP_001361620.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 608,
"cds_start": 736,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT1",
"gene_hgnc_id": 9202,
"hgvs_c": "c.736C>G",
"hgvs_p": "p.Gln246Glu",
"transcript": "NM_001374692.1",
"protein_id": "NP_001361621.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 608,
"cds_start": 736,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
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}
],
"message": null
}