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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: 1-44218457-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=44218457&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 44218457,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_019100.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.540C>A",
"hgvs_p": "p.His180Gln",
"transcript": "NM_019100.5",
"protein_id": "NP_061973.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 467,
"cds_start": 540,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": "ENST00000372289.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.540C>A",
"hgvs_p": "p.His180Gln",
"transcript": "ENST00000372289.7",
"protein_id": "ENSP00000361363.2",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 467,
"cds_start": 540,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": "NM_019100.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.540C>A",
"hgvs_p": "p.His180Gln",
"transcript": "ENST00000315913.9",
"protein_id": "ENSP00000312697.5",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 467,
"cds_start": 540,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.540C>A",
"hgvs_p": "p.His180Gln",
"transcript": "ENST00000361745.10",
"protein_id": "ENSP00000354697.6",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 467,
"cds_start": 540,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1545,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "n.3625C>A",
"hgvs_p": null,
"transcript": "ENST00000488433.5",
"protein_id": null,
"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": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.540C>A",
"hgvs_p": "p.His180Gln",
"transcript": "NM_001034023.2",
"protein_id": "NP_001029195.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 467,
"cds_start": 540,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.540C>A",
"hgvs_p": "p.His180Gln",
"transcript": "NM_001034024.2",
"protein_id": "NP_001029196.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 467,
"cds_start": 540,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.540C>A",
"hgvs_p": "p.His180Gln",
"transcript": "ENST00000446292.5",
"protein_id": "ENSP00000409200.1",
"transcript_support_level": 3,
"aa_start": 180,
"aa_end": null,
"aa_length": 301,
"cds_start": 540,
"cds_end": null,
"cds_length": 906,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 1066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.618C>A",
"hgvs_p": "p.His206Gln",
"transcript": "ENST00000437511.5",
"protein_id": "ENSP00000402494.1",
"transcript_support_level": 3,
"aa_start": 206,
"aa_end": null,
"aa_length": 284,
"cds_start": 618,
"cds_end": null,
"cds_length": 857,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.540C>A",
"hgvs_p": "p.His180Gln",
"transcript": "ENST00000440641.5",
"protein_id": "ENSP00000401099.1",
"transcript_support_level": 3,
"aa_start": 180,
"aa_end": null,
"aa_length": 236,
"cds_start": 540,
"cds_end": null,
"cds_length": 712,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 909,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "n.93C>A",
"hgvs_p": null,
"transcript": "ENST00000483741.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302536",
"gene_hgnc_id": null,
"hgvs_c": "n.67+2077G>T",
"hgvs_p": null,
"transcript": "ENST00000787675.1",
"protein_id": null,
"transcript_support_level": null,
"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": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302536",
"gene_hgnc_id": null,
"hgvs_c": "n.73+2077G>T",
"hgvs_p": null,
"transcript": "ENST00000787676.1",
"protein_id": null,
"transcript_support_level": null,
"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": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302536",
"gene_hgnc_id": null,
"hgvs_c": "n.73+2077G>T",
"hgvs_p": null,
"transcript": "ENST00000787677.1",
"protein_id": null,
"transcript_support_level": null,
"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": 708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.*27C>A",
"hgvs_p": null,
"transcript": "ENST00000372290.4",
"protein_id": "ENSP00000361364.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 396,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "n.*77C>A",
"hgvs_p": null,
"transcript": "ENST00000471829.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 874,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "n.*166C>A",
"hgvs_p": null,
"transcript": "ENST00000487922.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"dbsnp": "rs144462164",
"frequency_reference_population": 0.00001548795,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000109449,
"gnomad_genomes_af": 0.0000590954,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0802888572216034,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.1415,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.012,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_019100.5",
"gene_symbol": "DMAP1",
"hgnc_id": 18291,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.540C>A",
"hgvs_p": "p.His180Gln"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000787675.1",
"gene_symbol": "ENSG00000302536",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.67+2077G>T",
"hgvs_p": null
}
],
"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
}