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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: 14-30885501-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30885501&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COCH",
"hgnc_id": 2180,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Asp346Asn",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001347720.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000258525",
"hgnc_id": 58454,
"hgvs_c": "n.1364C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000555108.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "COCH-AS1",
"hgnc_id": 58454,
"hgvs_c": "n.1364C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NR_038356.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_score": -8,
"allele_count_reference_population": 469,
"alphamissense_prediction": null,
"alphamissense_score": 0.0764,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "14",
"clinvar_classification": "Benign",
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 9,Nonsyndromic genetic hearing loss,not provided,not specified",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:2 B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009686917066574097,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 550,
"aa_ref": "D",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1653,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004086.3",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396618.9",
"protein_coding": true,
"protein_id": "NP_004077.1",
"strand": true,
"transcript": "NM_004086.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 550,
"aa_ref": "D",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1653,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000396618.9",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004086.3",
"protein_coding": true,
"protein_id": "ENSP00000379862.3",
"strand": true,
"transcript": "ENST00000396618.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 615,
"aa_ref": "D",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2582,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000216361.9",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Asp346Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000216361.5",
"strand": true,
"transcript": "ENST00000216361.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 494,
"aa_ref": "D",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1485,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000475087.5",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451528.1",
"strand": true,
"transcript": "ENST00000475087.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000555108.1",
"gene_hgnc_id": 58454,
"gene_symbol": "ENSG00000258525",
"hgvs_c": "n.1364C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000555108.1",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 615,
"aa_ref": "D",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001347720.2",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Asp346Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334649.1",
"strand": true,
"transcript": "NM_001347720.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 615,
"aa_ref": "D",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000914779.1",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Asp346Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584838.1",
"strand": true,
"transcript": "ENST00000914779.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 569,
"aa_ref": "D",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1710,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000914778.1",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Asp300Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584837.1",
"strand": true,
"transcript": "ENST00000914778.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 550,
"aa_ref": "D",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1653,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001135058.2",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128530.1",
"strand": true,
"transcript": "NM_001135058.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 550,
"aa_ref": "D",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": 888,
"cds_end": null,
"cds_length": 1653,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000643575.1",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494838.1",
"strand": true,
"transcript": "ENST00000643575.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 550,
"aa_ref": "D",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1653,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000644874.2",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496360.1",
"strand": true,
"transcript": "ENST00000644874.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 550,
"aa_ref": "D",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1653,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000964788.1",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634847.1",
"strand": true,
"transcript": "ENST00000964788.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 550,
"aa_ref": "D",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1653,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000964789.1",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634848.1",
"strand": true,
"transcript": "ENST00000964789.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 549,
"aa_ref": "D",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1650,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000914780.1",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Asp280Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584839.1",
"strand": true,
"transcript": "ENST00000914780.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 549,
"aa_ref": "D",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2382,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1650,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000914781.1",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Asp280Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584840.1",
"strand": true,
"transcript": "ENST00000914781.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 513,
"aa_ref": "D",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1930,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1542,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000555117.2",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Asp300Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493569.1",
"strand": true,
"transcript": "ENST00000555117.2",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 453,
"aa_ref": "D",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1766,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1362,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000914782.1",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Asp184Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584841.1",
"strand": true,
"transcript": "ENST00000914782.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 438,
"aa_ref": "D",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2688,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1317,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000460581.6",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Asp169Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451713.1",
"strand": true,
"transcript": "ENST00000460581.6",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 433,
"aa_ref": "D",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 492,
"cds_end": null,
"cds_length": 1302,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000468826.2",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Asp164Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452284.1",
"strand": true,
"transcript": "ENST00000468826.2",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 201,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": 663,
"cds_end": null,
"cds_length": 606,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000555881.5",
"gene_hgnc_id": 2180,
"gene_symbol": "COCH",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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