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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: 5-69419423-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=69419423&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 69419423,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001038603.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "NM_001038603.3",
"protein_id": "NP_001033692.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 558,
"cds_start": 38,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 4423,
"mane_select": "ENST00000325631.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "ENST00000325631.10",
"protein_id": "ENSP00000323264.5",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 558,
"cds_start": 38,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 4423,
"mane_select": "NM_001038603.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "ENST00000454295.6",
"protein_id": "ENSP00000396244.2",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 546,
"cds_start": 38,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "n.38G>A",
"hgvs_p": null,
"transcript": "ENST00000413223.3",
"protein_id": "ENSP00000398922.2",
"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": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "ENST00000645446.1",
"protein_id": "ENSP00000494616.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 558,
"cds_start": 38,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "NM_001244734.2",
"protein_id": "NP_001231663.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 546,
"cds_start": 38,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "ENST00000647531.1",
"protein_id": "ENSP00000493858.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 546,
"cds_start": 38,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "ENST00000512803.5",
"protein_id": "ENSP00000423490.1",
"transcript_support_level": 5,
"aa_start": 13,
"aa_end": null,
"aa_length": 515,
"cds_start": 38,
"cds_end": null,
"cds_length": 1550,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "ENST00000436532.7",
"protein_id": "ENSP00000414776.2",
"transcript_support_level": 5,
"aa_start": 13,
"aa_end": null,
"aa_length": 442,
"cds_start": 38,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "ENST00000515844.1",
"protein_id": "ENSP00000421902.1",
"transcript_support_level": 4,
"aa_start": 13,
"aa_end": null,
"aa_length": 144,
"cds_start": 38,
"cds_end": null,
"cds_length": 436,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "XM_005248445.5",
"protein_id": "XP_005248502.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 558,
"cds_start": 38,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 4977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "XM_005248446.5",
"protein_id": "XP_005248503.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 558,
"cds_start": 38,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 4606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His",
"transcript": "XM_005248447.5",
"protein_id": "XP_005248504.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 546,
"cds_start": 38,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MARVELD2",
"gene_hgnc_id": 26401,
"dbsnp": "rs374313745",
"frequency_reference_population": 0.000018586969,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000191533,
"gnomad_genomes_af": 0.0000131454,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011220395565032959,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.0636,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.666,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001038603.3",
"gene_symbol": "MARVELD2",
"hgnc_id": 26401,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Arg13His"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 49",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 49",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}