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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: 1-44219183-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=44219183&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 44219183,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_019100.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "NM_019100.5",
"protein_id": "NP_061973.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 467,
"cds_start": 848,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372289.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019100.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "ENST00000372289.7",
"protein_id": "ENSP00000361363.2",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 467,
"cds_start": 848,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019100.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372289.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "ENST00000315913.9",
"protein_id": "ENSP00000312697.5",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 467,
"cds_start": 848,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315913.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "ENST00000361745.10",
"protein_id": "ENSP00000354697.6",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 467,
"cds_start": 848,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361745.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "n.3933G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488433.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"transcript": "ENST00000942392.1",
"protein_id": "ENSP00000612451.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 507,
"cds_start": 968,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942392.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"transcript": "ENST00000891875.1",
"protein_id": "ENSP00000561934.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 493,
"cds_start": 926,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891875.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "ENST00000924540.1",
"protein_id": "ENSP00000594599.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 471,
"cds_start": 848,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924540.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "NM_001034023.2",
"protein_id": "NP_001029195.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 467,
"cds_start": 848,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034023.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "NM_001034024.2",
"protein_id": "NP_001029196.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 467,
"cds_start": 848,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034024.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"transcript": "ENST00000891874.1",
"protein_id": "ENSP00000561933.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 466,
"cds_start": 845,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891874.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280His",
"transcript": "ENST00000891876.1",
"protein_id": "ENSP00000561935.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 464,
"cds_start": 839,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891876.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274His",
"transcript": "ENST00000942393.1",
"protein_id": "ENSP00000612452.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 458,
"cds_start": 821,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942393.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "ENST00000446292.5",
"protein_id": "ENSP00000409200.1",
"transcript_support_level": 3,
"aa_start": 283,
"aa_end": null,
"aa_length": 301,
"cds_start": 848,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446292.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "n.401G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483741.1"
},
{
"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+1351C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000787675.1"
},
{
"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+1351C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000787676.1"
},
{
"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+1351C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000787677.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"hgvs_c": "c.*69G>A",
"hgvs_p": null,
"transcript": "ENST00000437511.5",
"protein_id": "ENSP00000402494.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": null,
"cds_end": null,
"cds_length": 857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437511.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_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": "n.-237G>A",
"hgvs_p": null,
"transcript": "ENST00000494092.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494092.1"
}
],
"gene_symbol": "DMAP1",
"gene_hgnc_id": 18291,
"dbsnp": "rs150290470",
"frequency_reference_population": 0.00048697978,
"hom_count_reference_population": 1,
"allele_count_reference_population": 786,
"gnomad_exomes_af": 0.00050554,
"gnomad_genomes_af": 0.000308747,
"gnomad_exomes_ac": 739,
"gnomad_genomes_ac": 47,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2947426438331604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.408,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3031,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.324,
"phylop100way_prediction": "Pathogenic",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_019100.5",
"gene_symbol": "DMAP1",
"hgnc_id": 18291,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000787675.1",
"gene_symbol": "ENSG00000302536",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.67+1351C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}