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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: 10-73240981-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73240981&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAM149B1",
"hgnc_id": 29162,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Gly571Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_173348.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "DNAJC9",
"hgnc_id": 19123,
"hgvs_c": "c.*726C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "XM_047424908.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 112967,
"alphamissense_prediction": null,
"alphamissense_score": 0.071,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003529757261276245,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 582,
"aa_ref": "G",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5455,
"cdna_start": 1932,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1711,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_173348.2",
"gene_hgnc_id": 29162,
"gene_symbol": "FAM149B1",
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Gly571Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000242505.11",
"protein_coding": true,
"protein_id": "NP_775483.1",
"strand": true,
"transcript": "NM_173348.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 582,
"aa_ref": "G",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5455,
"cdna_start": 1932,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1711,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000242505.11",
"gene_hgnc_id": 29162,
"gene_symbol": "FAM149B1",
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Gly571Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173348.2",
"protein_coding": true,
"protein_id": "ENSP00000242505.6",
"strand": true,
"transcript": "ENST00000242505.11",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 580,
"aa_ref": "G",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000959965.1",
"gene_hgnc_id": 29162,
"gene_symbol": "FAM149B1",
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Gly569Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630024.1",
"strand": true,
"transcript": "ENST00000959965.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 574,
"aa_ref": "G",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1687,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000875782.1",
"gene_hgnc_id": 29162,
"gene_symbol": "FAM149B1",
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Gly563Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545841.1",
"strand": true,
"transcript": "ENST00000875782.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 556,
"aa_ref": "G",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2898,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1633,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000875781.1",
"gene_hgnc_id": 29162,
"gene_symbol": "FAM149B1",
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Gly545Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545840.1",
"strand": true,
"transcript": "ENST00000875781.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 532,
"aa_ref": "G",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1561,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000927205.1",
"gene_hgnc_id": 29162,
"gene_symbol": "FAM149B1",
"hgvs_c": "c.1561G>A",
"hgvs_p": "p.Gly521Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597264.1",
"strand": true,
"transcript": "ENST00000927205.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 506,
"aa_ref": "G",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000959964.1",
"gene_hgnc_id": 29162,
"gene_symbol": "FAM149B1",
"hgvs_c": "c.1483G>A",
"hgvs_p": "p.Gly495Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630023.1",
"strand": true,
"transcript": "ENST00000959964.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 389,
"aa_ref": "G",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2418,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1170,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000927206.1",
"gene_hgnc_id": 29162,
"gene_symbol": "FAM149B1",
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Gly378Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597265.1",
"strand": true,
"transcript": "ENST00000927206.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "G",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1008,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000445951.5",
"gene_hgnc_id": 29162,
"gene_symbol": "FAM149B1",
"hgvs_c": "c.970G>A",
"hgvs_p": "p.Gly324Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402293.1",
"strand": true,
"transcript": "ENST00000445951.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 238,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7947,
"cdna_start": null,
"cds_end": null,
"cds_length": 717,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047424908.1",
"gene_hgnc_id": 19123,
"gene_symbol": "DNAJC9",
"hgvs_c": "c.*726C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280864.1",
"strand": false,
"transcript": "XM_047424908.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 238,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3474,
"cdna_start": null,
"cds_end": null,
"cds_length": 717,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047424909.1",
"gene_hgnc_id": 19123,
"gene_symbol": "DNAJC9",
"hgvs_c": "c.*45+681C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280865.1",
"strand": false,
"transcript": "XM_047424909.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000468462.1",
"gene_hgnc_id": 29162,
"gene_symbol": "FAM149B1",
"hgvs_c": "n.1320G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000468462.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 762,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000453189.2",
"gene_hgnc_id": 19123,
"gene_symbol": "DNAJC9",
"hgvs_c": "n.153+681C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000453189.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 362,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469143.1",
"gene_hgnc_id": 19123,
"gene_symbol": "DNAJC9",
"hgvs_c": "n.147+2862C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000469143.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1029,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007061950.1",
"gene_hgnc_id": 19123,
"gene_symbol": "DNAJC9",
"hgvs_c": "n.828+681C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007061950.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs12573841",
"effect": "missense_variant",
"frequency_reference_population": 0.07533745,
"gene_hgnc_id": 29162,
"gene_symbol": "FAM149B1",
"gnomad_exomes_ac": 102026,
"gnomad_exomes_af": 0.0746445,
"gnomad_exomes_homalt": 5957,
"gnomad_genomes_ac": 10941,
"gnomad_genomes_af": 0.0824777,
"gnomad_genomes_homalt": 640,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 6597,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.52,
"pos": 73240981,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.126,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_173348.2"
}
]
}