← Back to variant description
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: 3-8985742-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=8985742&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 8985742,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014850.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.3077G>A",
"hgvs_p": "p.Arg1026His",
"transcript": "NM_014850.4",
"protein_id": "NP_055665.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383836.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014850.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.3077G>A",
"hgvs_p": "p.Arg1026His",
"transcript": "ENST00000383836.8",
"protein_id": "ENSP00000373347.3",
"transcript_support_level": 1,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014850.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383836.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.3005G>A",
"hgvs_p": "p.Arg1002His",
"transcript": "ENST00000360413.7",
"protein_id": "ENSP00000353587.3",
"transcript_support_level": 1,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1075,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360413.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.3005G>A",
"hgvs_p": "p.Arg1002His",
"transcript": "NM_001033117.3",
"protein_id": "NP_001028289.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1075,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033117.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.3131G>A",
"hgvs_p": "p.Arg1044His",
"transcript": "XM_017007574.2",
"protein_id": "XP_016863063.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3131,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007574.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.3092G>A",
"hgvs_p": "p.Arg1031His",
"transcript": "XM_011534295.3",
"protein_id": "XP_011532597.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534295.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.3059G>A",
"hgvs_p": "p.Arg1020His",
"transcript": "XM_017007575.2",
"protein_id": "XP_016863064.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3059,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007575.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.3035G>A",
"hgvs_p": "p.Arg1012His",
"transcript": "XM_011534296.3",
"protein_id": "XP_011532598.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1085,
"cds_start": 3035,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534296.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.3029G>A",
"hgvs_p": "p.Arg1010His",
"transcript": "XM_024453842.2",
"protein_id": "XP_024309610.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453842.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.3014G>A",
"hgvs_p": "p.Arg1005His",
"transcript": "XM_047449333.1",
"protein_id": "XP_047305289.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1078,
"cds_start": 3014,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449333.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.2732G>A",
"hgvs_p": "p.Arg911His",
"transcript": "XM_024453843.2",
"protein_id": "XP_024309611.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 984,
"cds_start": 2732,
"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": "XM_024453843.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.2603G>A",
"hgvs_p": "p.Arg868His",
"transcript": "XM_011534301.4",
"protein_id": "XP_011532603.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 941,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534301.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518His",
"transcript": "XM_047449337.1",
"protein_id": "XP_047305293.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 591,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.*172G>A",
"hgvs_p": null,
"transcript": "XM_017007579.2",
"protein_id": "XP_016863068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": null,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007579.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.*172G>A",
"hgvs_p": null,
"transcript": "XM_047449334.1",
"protein_id": "XP_047305290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": null,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449334.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.*172G>A",
"hgvs_p": null,
"transcript": "XM_047449335.1",
"protein_id": "XP_047305291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": null,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449335.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.*172G>A",
"hgvs_p": null,
"transcript": "XM_047449336.1",
"protein_id": "XP_047305292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": null,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449336.1"
}
],
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"dbsnp": "rs1488419249",
"frequency_reference_population": 6.911796e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.9118e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29521816968917847,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.248,
"revel_prediction": "Benign",
"alphamissense_score": 0.1604,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.028,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014850.4",
"gene_symbol": "SRGAP3",
"hgnc_id": 19744,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3077G>A",
"hgvs_p": "p.Arg1026His"
}
],
"clinvar_disease": "See cases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "See cases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}