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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: 4-75960072-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=75960072&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 75960072,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000356260.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.1477G>T",
"hgvs_p": "p.Asp493Tyr",
"transcript": "NM_018115.4",
"protein_id": "NP_060585.2",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 687,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": "ENST00000356260.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.1477G>T",
"hgvs_p": "p.Asp493Tyr",
"transcript": "ENST00000356260.10",
"protein_id": "ENSP00000348596.5",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 687,
"cds_start": 1477,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": "NM_018115.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "n.*1333G>T",
"hgvs_p": null,
"transcript": "ENST00000395710.5",
"protein_id": "ENSP00000379060.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "n.*1333G>T",
"hgvs_p": null,
"transcript": "ENST00000395710.5",
"protein_id": "ENSP00000379060.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.1366G>T",
"hgvs_p": "p.Asp456Tyr",
"transcript": "NM_001288983.2",
"protein_id": "NP_001275912.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 650,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.1366G>T",
"hgvs_p": "p.Asp456Tyr",
"transcript": "ENST00000395711.8",
"protein_id": "ENSP00000379061.4",
"transcript_support_level": 2,
"aa_start": 456,
"aa_end": null,
"aa_length": 650,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.1186G>T",
"hgvs_p": "p.Asp396Tyr",
"transcript": "NM_001288984.2",
"protein_id": "NP_001275913.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 590,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.1402G>T",
"hgvs_p": "p.Asp468Tyr",
"transcript": "XM_005263102.5",
"protein_id": "XP_005263159.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 662,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Asp227Tyr",
"transcript": "XM_047415888.1",
"protein_id": "XP_047271844.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 421,
"cds_start": 679,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"hgvs_c": "n.*50G>T",
"hgvs_p": null,
"transcript": "ENST00000513089.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SDAD1",
"gene_hgnc_id": 25537,
"dbsnp": "rs199729977",
"frequency_reference_population": 0.000016183727,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000165036,
"gnomad_genomes_af": 0.0000131303,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1298728883266449,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.1142,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.067,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000356260.10",
"gene_symbol": "SDAD1",
"hgnc_id": 25537,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1477G>T",
"hgvs_p": "p.Asp493Tyr"
}
],
"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
}