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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: 9-23762129-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=23762129&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ELAVL2",
"hgnc_id": 3313,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001351455.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.3665,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "ELAVL2-related disorder,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5483693480491638,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 359,
"aa_ref": "D",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3983,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1080,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_004432.5",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397312.7",
"protein_coding": true,
"protein_id": "NP_004423.2",
"strand": false,
"transcript": "NM_004432.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 359,
"aa_ref": "D",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3983,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1080,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000397312.7",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004432.5",
"protein_coding": true,
"protein_id": "ENSP00000380479.2",
"strand": false,
"transcript": "ENST00000397312.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 359,
"aa_ref": "D",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1080,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000380117.5",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369460.1",
"strand": false,
"transcript": "ENST00000380117.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 346,
"aa_ref": "D",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 375,
"cds_end": null,
"cds_length": 1041,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000223951.10",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000223951.5",
"strand": false,
"transcript": "ENST00000223951.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 389,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4077,
"cdna_start": 647,
"cds_end": null,
"cds_length": 1170,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351455.2",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338384.1",
"strand": false,
"transcript": "NM_001351455.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 389,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4009,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1170,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001385697.1",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372626.1",
"strand": false,
"transcript": "NM_001385697.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 389,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3858,
"cdna_start": 428,
"cds_end": null,
"cds_length": 1170,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001385698.1",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372627.1",
"strand": false,
"transcript": "NM_001385698.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 389,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3725,
"cdna_start": 295,
"cds_end": null,
"cds_length": 1170,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001385704.1",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372633.1",
"strand": false,
"transcript": "NM_001385704.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 389,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3691,
"cdna_start": 261,
"cds_end": null,
"cds_length": 1170,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000380110.8",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369453.4",
"strand": false,
"transcript": "ENST00000380110.8",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1167,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351456.2",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338385.1",
"strand": false,
"transcript": "NM_001351456.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": 647,
"cds_end": null,
"cds_length": 1167,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351457.2",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338386.1",
"strand": false,
"transcript": "NM_001351457.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4006,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1167,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351458.2",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338387.1",
"strand": false,
"transcript": "NM_001351458.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 295,
"cds_end": null,
"cds_length": 1167,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351459.2",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338388.1",
"strand": false,
"transcript": "NM_001351459.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1167,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351460.2",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Asp64Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338389.1",
"strand": false,
"transcript": "NM_001351460.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1167,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351461.2",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Asp64Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338390.1",
"strand": false,
"transcript": "NM_001351461.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3855,
"cdna_start": 428,
"cds_end": null,
"cds_length": 1167,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001385699.1",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372628.1",
"strand": false,
"transcript": "NM_001385699.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3855,
"cdna_start": 425,
"cds_end": null,
"cds_length": 1167,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001385700.1",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Asp64Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372629.1",
"strand": false,
"transcript": "NM_001385700.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3861,
"cdna_start": 434,
"cds_end": null,
"cds_length": 1167,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001385707.1",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372636.1",
"strand": false,
"transcript": "NM_001385707.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 387,
"aa_ref": "D",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1164,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351462.2",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Asp64Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338391.1",
"strand": false,
"transcript": "NM_001351462.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 387,
"aa_ref": "D",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4071,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1164,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351463.2",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Asp64Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338392.1",
"strand": false,
"transcript": "NM_001351463.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 376,
"aa_ref": "D",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1131,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001385695.1",
"gene_hgnc_id": 3313,
"gene_symbol": "ELAVL2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Asp65Asn",
"intron_rank": null,
"intron_rank_end": null,
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}