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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: 11-46680710-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46680710&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 46680710,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004308.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "NM_004308.5",
"protein_id": "NP_004299.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 439,
"cds_start": 673,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311956.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004308.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "ENST00000311956.9",
"protein_id": "ENSP00000310491.4",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 439,
"cds_start": 673,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004308.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311956.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "n.361G>T",
"hgvs_p": null,
"transcript": "ENST00000526423.1",
"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": "retained_intron",
"feature": "ENST00000526423.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.838G>T",
"hgvs_p": "p.Ala280Ser",
"transcript": "ENST00000873835.1",
"protein_id": "ENSP00000543894.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 494,
"cds_start": 838,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873835.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "ENST00000917231.1",
"protein_id": "ENSP00000587290.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 487,
"cds_start": 673,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917231.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "ENST00000970419.1",
"protein_id": "ENSP00000640478.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 455,
"cds_start": 673,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970419.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.703G>T",
"hgvs_p": "p.Ala235Ser",
"transcript": "ENST00000873834.1",
"protein_id": "ENSP00000543893.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 449,
"cds_start": 703,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873834.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "ENST00000873837.1",
"protein_id": "ENSP00000543896.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 439,
"cds_start": 673,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873837.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "ENST00000873838.1",
"protein_id": "ENSP00000543897.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 439,
"cds_start": 673,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873838.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "ENST00000873840.1",
"protein_id": "ENSP00000543899.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 439,
"cds_start": 673,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873840.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "ENST00000917227.1",
"protein_id": "ENSP00000587286.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 439,
"cds_start": 673,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917227.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "ENST00000970420.1",
"protein_id": "ENSP00000640479.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 439,
"cds_start": 673,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970420.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "ENST00000873836.1",
"protein_id": "ENSP00000543895.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 413,
"cds_start": 673,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873836.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "ENST00000873839.1",
"protein_id": "ENSP00000543898.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 396,
"cds_start": 673,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873839.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "ENST00000917228.1",
"protein_id": "ENSP00000587287.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 370,
"cds_start": 673,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917228.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000917229.1",
"protein_id": "ENSP00000587288.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 369,
"cds_start": 541,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917229.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.532G>T",
"hgvs_p": "p.Ala178Ser",
"transcript": "ENST00000528837.5",
"protein_id": "ENSP00000434883.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 332,
"cds_start": 532,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528837.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "ENST00000917230.1",
"protein_id": "ENSP00000587289.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 326,
"cds_start": 541,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917230.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser",
"transcript": "XM_047426933.1",
"protein_id": "XP_047282889.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 439,
"cds_start": 673,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426933.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Ala181Ser",
"transcript": "XM_024448520.2",
"protein_id": "XP_024304288.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 395,
"cds_start": 541,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448520.2"
}
],
"gene_symbol": "ARHGAP1",
"gene_hgnc_id": 673,
"dbsnp": "rs772140895",
"frequency_reference_population": 0.000032357286,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000323006,
"gnomad_genomes_af": 0.0000328882,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03724265098571777,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": 0.0729,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.062,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004308.5",
"gene_symbol": "ARHGAP1",
"hgnc_id": 673,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Ala225Ser"
}
],
"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
}