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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: 2-64552099-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=64552099&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 64552099,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001375969.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "NM_203437.4",
"protein_id": "NP_982261.2",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 936,
"cds_start": 625,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409933.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203437.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000409933.6",
"protein_id": "ENSP00000387071.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 936,
"cds_start": 625,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_203437.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409933.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000238856.8",
"protein_id": "ENSP00000238856.4",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 909,
"cds_start": 625,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238856.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "n.743C>T",
"hgvs_p": null,
"transcript": "ENST00000498706.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000498706.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "NM_001375969.1",
"protein_id": "NP_001362898.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 967,
"cds_start": 625,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375969.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000695867.1",
"protein_id": "ENSP00000512232.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 967,
"cds_start": 625,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695867.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "NM_001375970.1",
"protein_id": "NP_001362899.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 966,
"cds_start": 625,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375970.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000695866.1",
"protein_id": "ENSP00000512231.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 966,
"cds_start": 625,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695866.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "NM_001375971.1",
"protein_id": "NP_001362900.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 937,
"cds_start": 625,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375971.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000695864.1",
"protein_id": "ENSP00000512229.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 937,
"cds_start": 625,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695864.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "NM_017657.5",
"protein_id": "NP_060127.3",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 909,
"cds_start": 625,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017657.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000880242.1",
"protein_id": "ENSP00000550301.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 909,
"cds_start": 625,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880242.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "NM_001002243.3",
"protein_id": "NP_001002243.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 908,
"cds_start": 625,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002243.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000880238.1",
"protein_id": "ENSP00000550297.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 908,
"cds_start": 625,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880238.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000880239.1",
"protein_id": "ENSP00000550298.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 908,
"cds_start": 625,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880239.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000880243.1",
"protein_id": "ENSP00000550302.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 908,
"cds_start": 625,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880243.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000880241.1",
"protein_id": "ENSP00000550300.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 907,
"cds_start": 625,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880241.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "NM_001375972.1",
"protein_id": "NP_001362901.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 895,
"cds_start": 625,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375972.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000695865.1",
"protein_id": "ENSP00000512230.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 895,
"cds_start": 625,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695865.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000920108.1",
"protein_id": "ENSP00000590167.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 890,
"cds_start": 625,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920108.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "ENST00000942373.1",
"protein_id": "ENSP00000612432.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 889,
"cds_start": 625,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942373.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFTPH",
"gene_hgnc_id": 25951,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Trp",
"transcript": "NM_001394995.1",
"protein_id": "NP_001381924.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 868,
"cds_start": 625,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394995.1"
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{
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"phenotype_combined": "not specified",
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}
],
"message": null
}