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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: 3-9037442-C-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9037442&ref=C&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9037442,
"ref": "C",
"alt": "CA",
"effect": "intron_variant",
"transcript": "ENST00000383836.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "n.1665dupT",
"hgvs_p": null,
"transcript": "ENST00000485983.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1436+620dupT",
"hgvs_p": null,
"transcript": "NM_014850.4",
"protein_id": "NP_055665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": -4,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8923,
"mane_select": "ENST00000383836.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1436+620dupT",
"hgvs_p": null,
"transcript": "ENST00000383836.8",
"protein_id": "ENSP00000373347.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": -4,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8923,
"mane_select": "NM_014850.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1436+620dupT",
"hgvs_p": null,
"transcript": "ENST00000360413.7",
"protein_id": "ENSP00000353587.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1075,
"cds_start": -4,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1436+620dupT",
"hgvs_p": null,
"transcript": "NM_001033117.3",
"protein_id": "NP_001028289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1075,
"cds_start": -4,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "n.1714+620dupT",
"hgvs_p": null,
"transcript": "ENST00000433332.7",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "n.207+620dupT",
"hgvs_p": null,
"transcript": "ENST00000475560.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1490+620dupT",
"hgvs_p": null,
"transcript": "XM_017007574.2",
"protein_id": "XP_016863063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1117,
"cds_start": -4,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1436+620dupT",
"hgvs_p": null,
"transcript": "XM_011534295.3",
"protein_id": "XP_011532597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": -4,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1490+620dupT",
"hgvs_p": null,
"transcript": "XM_017007575.2",
"protein_id": "XP_016863064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1093,
"cds_start": -4,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1379+620dupT",
"hgvs_p": null,
"transcript": "XM_011534296.3",
"protein_id": "XP_011532598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1085,
"cds_start": -4,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1373+620dupT",
"hgvs_p": null,
"transcript": "XM_024453842.2",
"protein_id": "XP_024309610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": -4,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
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"cdna_length": 8875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1373+620dupT",
"hgvs_p": null,
"transcript": "XM_047449333.1",
"protein_id": "XP_047305289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1078,
"cds_start": -4,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
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"cdna_length": 8860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1076+620dupT",
"hgvs_p": null,
"transcript": "XM_024453843.2",
"protein_id": "XP_024309611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 984,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.947+620dupT",
"hgvs_p": null,
"transcript": "XM_011534301.4",
"protein_id": "XP_011532603.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1490+620dupT",
"hgvs_p": null,
"transcript": "XM_017007579.2",
"protein_id": "XP_016863068.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1436+620dupT",
"hgvs_p": null,
"transcript": "XM_047449334.1",
"protein_id": "XP_047305290.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 858,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1373+620dupT",
"hgvs_p": null,
"transcript": "XM_047449335.1",
"protein_id": "XP_047305291.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 837,
"cds_start": -4,
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"cds_length": 2514,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1436+620dupT",
"hgvs_p": null,
"transcript": "XM_047449336.1",
"protein_id": "XP_047305292.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
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"hgvs_c": "c.15+620dupT",
"hgvs_p": null,
"transcript": "XM_047449337.1",
"protein_id": "XP_047305293.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"hgvs_c": "c.1490+620dupT",
"hgvs_p": null,
"transcript": "XM_047449338.1",
"protein_id": "XP_047305294.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 505,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SRGAP3",
"gene_hgnc_id": 19744,
"dbsnp": "rs35966925",
"frequency_reference_population": 0.16569367,
"hom_count_reference_population": 2308,
"allele_count_reference_population": 25544,
"gnomad_exomes_af": 0.149855,
"gnomad_genomes_af": 0.165908,
"gnomad_exomes_ac": 309,
"gnomad_genomes_ac": 25235,
"gnomad_exomes_homalt": 28,
"gnomad_genomes_homalt": 2280,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.103,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000383836.8",
"gene_symbol": "SRGAP3",
"hgnc_id": 19744,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1436+620dupT",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}