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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: 4-73413602-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73413602&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALB",
"hgnc_id": 399,
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_000477.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4231,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "4",
"clinvar_classification": "other",
"clinvar_disease": "ALBUMIN MALMO-47",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2571154236793518,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000477.7",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000295897.9",
"protein_coding": true,
"protein_id": "NP_000468.1",
"strand": true,
"transcript": "NM_000477.7",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000295897.9",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000477.7",
"protein_coding": true,
"protein_id": "ENSP00000295897.4",
"strand": true,
"transcript": "ENST00000295897.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 417,
"aa_ref": "N",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 491,
"cds_end": null,
"cds_length": 1254,
"cds_start": 450,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000415165.6",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.450C>G",
"hgvs_p": "p.Asn150Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401820.2",
"strand": true,
"transcript": "ENST00000415165.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 630,
"aa_ref": "N",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1089,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876051.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1089C>G",
"hgvs_p": "p.Asn363Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546110.1",
"strand": true,
"transcript": "ENST00000876051.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 617,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876034.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546093.1",
"strand": true,
"transcript": "ENST00000876034.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2350,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876006.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546065.1",
"strand": true,
"transcript": "ENST00000876006.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3367,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876007.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546066.1",
"strand": true,
"transcript": "ENST00000876007.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876008.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546067.1",
"strand": true,
"transcript": "ENST00000876008.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876010.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546069.1",
"strand": true,
"transcript": "ENST00000876010.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876014.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546073.1",
"strand": true,
"transcript": "ENST00000876014.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876018.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546077.1",
"strand": true,
"transcript": "ENST00000876018.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876019.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546078.1",
"strand": true,
"transcript": "ENST00000876019.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876041.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546100.1",
"strand": true,
"transcript": "ENST00000876041.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1981,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876047.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546106.1",
"strand": true,
"transcript": "ENST00000876047.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 609,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876049.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546108.1",
"strand": true,
"transcript": "ENST00000876049.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 604,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000509063.5",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422784.1",
"strand": true,
"transcript": "ENST00000509063.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 601,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1026,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876024.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.Asn342Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546083.1",
"strand": true,
"transcript": "ENST00000876024.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 599,
"aa_ref": "N",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2026,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1800,
"cds_start": 996,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876050.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546109.1",
"strand": true,
"transcript": "ENST00000876050.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 596,
"aa_ref": "N",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1791,
"cds_start": 987,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000876031.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.987C>G",
"hgvs_p": "p.Asn329Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546090.1",
"strand": true,
"transcript": "ENST00000876031.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 594,
"aa_ref": "N",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1785,
"cds_start": 981,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876045.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.981C>G",
"hgvs_p": "p.Asn327Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546104.1",
"strand": true,
"transcript": "ENST00000876045.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 590,
"aa_ref": "N",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1773,
"cds_start": 969,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876038.1",
"gene_hgnc_id": 399,
"gene_symbol": "ALB",
"hgvs_c": "c.969C>G",
"hgvs_p": "p.Asn323Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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