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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: 1-155948014-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155948014&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155948014,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001162383.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2889C>A",
"hgvs_p": "p.Asp963Glu",
"transcript": "NM_001162383.2",
"protein_id": "NP_001155855.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 986,
"cds_start": 2889,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361247.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001162383.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2889C>A",
"hgvs_p": "p.Asp963Glu",
"transcript": "ENST00000361247.9",
"protein_id": "ENSP00000354837.4",
"transcript_support_level": 1,
"aa_start": 963,
"aa_end": null,
"aa_length": 986,
"cds_start": 2889,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001162383.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361247.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2886C>A",
"hgvs_p": "p.Asp962Glu",
"transcript": "ENST00000313667.8",
"protein_id": "ENSP00000314787.4",
"transcript_support_level": 1,
"aa_start": 962,
"aa_end": null,
"aa_length": 985,
"cds_start": 2886,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313667.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2805C>A",
"hgvs_p": "p.Asp935Glu",
"transcript": "ENST00000313695.11",
"protein_id": "ENSP00000315325.7",
"transcript_support_level": 1,
"aa_start": 935,
"aa_end": null,
"aa_length": 958,
"cds_start": 2805,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313695.11"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.3318C>A",
"hgvs_p": "p.Asp1106Glu",
"transcript": "ENST00000673475.1",
"protein_id": "ENSP00000500802.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3318,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673475.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.3024C>A",
"hgvs_p": "p.Asp1008Glu",
"transcript": "ENST00000462460.6",
"protein_id": "ENSP00000476916.1",
"transcript_support_level": 5,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1031,
"cds_start": 3024,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462460.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2892C>A",
"hgvs_p": "p.Asp964Glu",
"transcript": "ENST00000696601.1",
"protein_id": "ENSP00000512746.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 987,
"cds_start": 2892,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696601.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2886C>A",
"hgvs_p": "p.Asp962Glu",
"transcript": "NM_001162384.2",
"protein_id": "NP_001155856.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 985,
"cds_start": 2886,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001162384.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2883C>A",
"hgvs_p": "p.Asp961Glu",
"transcript": "ENST00000873828.1",
"protein_id": "ENSP00000543887.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 984,
"cds_start": 2883,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873828.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2883C>A",
"hgvs_p": "p.Asp961Glu",
"transcript": "ENST00000873829.1",
"protein_id": "ENSP00000543888.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 984,
"cds_start": 2883,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873829.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2865C>A",
"hgvs_p": "p.Asp955Glu",
"transcript": "NM_001350112.2",
"protein_id": "NP_001337041.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 978,
"cds_start": 2865,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350112.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2838C>A",
"hgvs_p": "p.Asp946Glu",
"transcript": "NM_001350110.2",
"protein_id": "NP_001337039.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 969,
"cds_start": 2838,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350110.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2838C>A",
"hgvs_p": "p.Asp946Glu",
"transcript": "NM_001350111.2",
"protein_id": "NP_001337040.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 969,
"cds_start": 2838,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350111.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2805C>A",
"hgvs_p": "p.Asp935Glu",
"transcript": "NM_004723.4",
"protein_id": "NP_004714.2",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 958,
"cds_start": 2805,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004723.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2640C>A",
"hgvs_p": "p.Asp880Glu",
"transcript": "ENST00000927873.1",
"protein_id": "ENSP00000597932.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 903,
"cds_start": 2640,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927873.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.717C>A",
"hgvs_p": "p.Asp239Glu",
"transcript": "ENST00000470541.6",
"protein_id": "ENSP00000476689.1",
"transcript_support_level": 3,
"aa_start": 239,
"aa_end": null,
"aa_length": 262,
"cds_start": 717,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470541.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "n.*2551C>A",
"hgvs_p": null,
"transcript": "ENST00000696600.1",
"protein_id": "ENSP00000512745.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000696600.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "n.*2551C>A",
"hgvs_p": null,
"transcript": "ENST00000696600.1",
"protein_id": "ENSP00000512745.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000696600.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "n.658-934C>A",
"hgvs_p": null,
"transcript": "ENST00000477754.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000477754.2"
}
],
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"dbsnp": "rs775775307",
"frequency_reference_population": 0.000043837932,
"hom_count_reference_population": 0,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000443224,
"gnomad_genomes_af": 0.0000393892,
"gnomad_exomes_ac": 62,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02855372428894043,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.1687,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.753,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000509161839078574,
"dbscsnv_ada_prediction": "Benign",
"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_001162383.2",
"gene_symbol": "ARHGEF2",
"hgnc_id": 682,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2889C>A",
"hgvs_p": "p.Asp963Glu"
}
],
"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
}