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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: 10-43200717-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=43200717&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RASGEF1A",
"hgnc_id": 24246,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001282862.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 29,
"alphamissense_prediction": null,
"alphamissense_score": 0.0989,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2200877070426941,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 481,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1446,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_145313.4",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Val211Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395810.6",
"protein_coding": true,
"protein_id": "NP_660356.2",
"strand": false,
"transcript": "NM_145313.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 481,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1446,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000395810.6",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Val211Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145313.4",
"protein_coding": true,
"protein_id": "ENSP00000379155.1",
"strand": false,
"transcript": "ENST00000395810.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1482,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954344.1",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Val223Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624403.1",
"strand": false,
"transcript": "ENST00000954344.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1470,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282862.2",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269791.1",
"strand": false,
"transcript": "NM_001282862.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1470,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000374459.5",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363583.1",
"strand": false,
"transcript": "ENST00000374459.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 481,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4104,
"cdna_start": 3138,
"cds_end": null,
"cds_length": 1446,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000395809.5",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Val211Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379154.1",
"strand": false,
"transcript": "ENST00000395809.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 481,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 833,
"cds_end": null,
"cds_length": 1446,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898232.1",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Val211Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568291.1",
"strand": false,
"transcript": "ENST00000898232.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 481,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1446,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898233.1",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Val211Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568292.1",
"strand": false,
"transcript": "ENST00000898233.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 480,
"aa_ref": "V",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3286,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1443,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898231.1",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568290.1",
"strand": false,
"transcript": "ENST00000898231.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1826,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1371,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954345.1",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Val186Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624404.1",
"strand": false,
"transcript": "ENST00000954345.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 209,
"aa_ref": "V",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 632,
"cdna_start": 335,
"cds_end": null,
"cds_length": 631,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000374455.2",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Val112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363579.2",
"strand": false,
"transcript": "ENST00000374455.2",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 401,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3103,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1206,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005271809.4",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271866.1",
"strand": false,
"transcript": "XM_005271809.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 401,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": 504,
"cds_end": null,
"cds_length": 1206,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011539500.3",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537802.1",
"strand": false,
"transcript": "XM_011539500.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 753,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000472864.1",
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"hgvs_c": "n.641G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000472864.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs569429774",
"effect": "missense_variant",
"frequency_reference_population": 0.000017972525,
"gene_hgnc_id": 24246,
"gene_symbol": "RASGEF1A",
"gnomad_exomes_ac": 26,
"gnomad_exomes_af": 0.0000177929,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000196956,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.807,
"pos": 43200717,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.123,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001282862.2"
}
]
}