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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: 19-48720995-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48720995&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48720995,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_017805.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2695G>A",
"hgvs_p": "p.Asp899Asn",
"transcript": "NM_017805.3",
"protein_id": "NP_060275.2",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 963,
"cds_start": 2695,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222145.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017805.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2695G>A",
"hgvs_p": "p.Asp899Asn",
"transcript": "ENST00000222145.9",
"protein_id": "ENSP00000222145.3",
"transcript_support_level": 1,
"aa_start": 899,
"aa_end": null,
"aa_length": 963,
"cds_start": 2695,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017805.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222145.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Asp911Asn",
"transcript": "ENST00000963671.1",
"protein_id": "ENSP00000633730.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 975,
"cds_start": 2731,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963671.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2725G>A",
"hgvs_p": "p.Asp909Asn",
"transcript": "ENST00000862294.1",
"protein_id": "ENSP00000532353.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 973,
"cds_start": 2725,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862294.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2431G>A",
"hgvs_p": "p.Asp811Asn",
"transcript": "ENST00000963673.1",
"protein_id": "ENSP00000633732.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 875,
"cds_start": 2431,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963673.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Asp691Asn",
"transcript": "ENST00000963674.1",
"protein_id": "ENSP00000633733.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 755,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963674.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2701G>A",
"hgvs_p": "p.Asp901Asn",
"transcript": "ENST00000862296.1",
"protein_id": "ENSP00000532355.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 965,
"cds_start": 2701,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862296.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2695G>A",
"hgvs_p": "p.Asp899Asn",
"transcript": "ENST00000963672.1",
"protein_id": "ENSP00000633731.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 963,
"cds_start": 2695,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963672.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2566G>A",
"hgvs_p": "p.Asp856Asn",
"transcript": "ENST00000862298.1",
"protein_id": "ENSP00000532357.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 920,
"cds_start": 2566,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862298.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2401G>A",
"hgvs_p": "p.Asp801Asn",
"transcript": "ENST00000862295.1",
"protein_id": "ENSP00000532354.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 865,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862295.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2041G>A",
"hgvs_p": "p.Asp681Asn",
"transcript": "ENST00000862297.1",
"protein_id": "ENSP00000532356.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 745,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862297.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "n.1189G>A",
"hgvs_p": null,
"transcript": "ENST00000601530.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000601530.1"
}
],
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"dbsnp": "rs1446175729",
"frequency_reference_population": 0.000006924335,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000692434,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48933470249176025,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.3351,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.961,
"phylop100way_prediction": "Uncertain_significance",
"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": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_017805.3",
"gene_symbol": "RASIP1",
"hgnc_id": 24716,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2695G>A",
"hgvs_p": "p.Asp899Asn"
}
],
"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
}