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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: 13-100625620-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100625620&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 100625620,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001350571.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1751G>T",
"hgvs_p": "p.Arg584Leu",
"transcript": "NM_032813.5",
"protein_id": "NP_116202.2",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 760,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342624.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032813.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1751G>T",
"hgvs_p": "p.Arg584Leu",
"transcript": "ENST00000342624.10",
"protein_id": "ENSP00000343871.5",
"transcript_support_level": 2,
"aa_start": 584,
"aa_end": null,
"aa_length": 760,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032813.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342624.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1694G>T",
"hgvs_p": "p.Arg565Leu",
"transcript": "ENST00000376234.7",
"protein_id": "ENSP00000365408.3",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 741,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376234.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "n.1111G>T",
"hgvs_p": null,
"transcript": "ENST00000462211.5",
"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": "pseudogene",
"feature": "ENST00000462211.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1925G>T",
"hgvs_p": "p.Arg642Leu",
"transcript": "NM_001350571.2",
"protein_id": "NP_001337500.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 818,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350571.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1925G>T",
"hgvs_p": "p.Arg642Leu",
"transcript": "ENST00000861694.1",
"protein_id": "ENSP00000531753.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 818,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861694.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1925G>T",
"hgvs_p": "p.Arg642Leu",
"transcript": "ENST00000861696.1",
"protein_id": "ENSP00000531755.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 815,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861696.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1868G>T",
"hgvs_p": "p.Arg623Leu",
"transcript": "NM_001350574.2",
"protein_id": "NP_001337503.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 799,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350574.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1751G>T",
"hgvs_p": "p.Arg584Leu",
"transcript": "ENST00000861697.1",
"protein_id": "ENSP00000531756.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 773,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861697.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1751G>T",
"hgvs_p": "p.Arg584Leu",
"transcript": "ENST00000861692.1",
"protein_id": "ENSP00000531751.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 760,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861692.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1751G>T",
"hgvs_p": "p.Arg584Leu",
"transcript": "ENST00000861701.1",
"protein_id": "ENSP00000531760.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 760,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861701.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1751G>T",
"hgvs_p": "p.Arg584Leu",
"transcript": "ENST00000930118.1",
"protein_id": "ENSP00000600177.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 760,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930118.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1751G>T",
"hgvs_p": "p.Arg584Leu",
"transcript": "ENST00000930120.1",
"protein_id": "ENSP00000600179.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 760,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930120.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1745G>T",
"hgvs_p": "p.Arg582Leu",
"transcript": "NM_001350576.2",
"protein_id": "NP_001337505.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 758,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350576.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1745G>T",
"hgvs_p": "p.Arg582Leu",
"transcript": "ENST00000861695.1",
"protein_id": "ENSP00000531754.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 758,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861695.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1751G>T",
"hgvs_p": "p.Arg584Leu",
"transcript": "ENST00000861693.1",
"protein_id": "ENSP00000531752.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 757,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861693.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1751G>T",
"hgvs_p": "p.Arg584Leu",
"transcript": "ENST00000930119.1",
"protein_id": "ENSP00000600178.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 757,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930119.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1694G>T",
"hgvs_p": "p.Arg565Leu",
"transcript": "NM_001079669.4",
"protein_id": "NP_001073137.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 741,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079669.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1694G>T",
"hgvs_p": "p.Arg565Leu",
"transcript": "NM_001350572.2",
"protein_id": "NP_001337501.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 741,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350572.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1688G>T",
"hgvs_p": "p.Arg563Leu",
"transcript": "NM_001350577.2",
"protein_id": "NP_001337506.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 739,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350577.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1658G>T",
"hgvs_p": "p.Arg553Leu",
"transcript": "ENST00000861700.1",
"protein_id": "ENSP00000531759.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 729,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861700.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMTC4",
"gene_hgnc_id": 25904,
"hgvs_c": "c.1562G>T",
"hgvs_p": "p.Arg521Leu",
"transcript": "ENST00000861698.1",
"protein_id": "ENSP00000531757.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 697,
"cds_start": 1562,
"cds_end": null,
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{
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{
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],
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}
],
"gene_symbol": "TMTC4",
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"dbsnp": "rs749518908",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
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"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8215535879135132,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.241,
"revel_prediction": "Benign",
"alphamissense_score": 0.1275,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.345,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350571.2",
"gene_symbol": "TMTC4",
"hgnc_id": 25904,
"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}