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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: 1-206423548-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=206423548&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 206423548,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_015326.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1494+2274G>T",
"hgvs_p": null,
"transcript": "NM_015326.5",
"protein_id": "NP_056141.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000573034.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015326.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1494+2274G>T",
"hgvs_p": null,
"transcript": "ENST00000573034.8",
"protein_id": "ENSP00000459615.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015326.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573034.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1491+2274G>T",
"hgvs_p": null,
"transcript": "ENST00000624873.3",
"protein_id": "ENSP00000485517.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": null,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000624873.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.336+2274G>T",
"hgvs_p": null,
"transcript": "ENST00000605476.5",
"protein_id": "ENSP00000474270.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": null,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605476.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1491+2274G>T",
"hgvs_p": null,
"transcript": "ENST00000934486.1",
"protein_id": "ENSP00000604545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": null,
"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": "ENST00000934486.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1494+2274G>T",
"hgvs_p": null,
"transcript": "ENST00000934487.1",
"protein_id": "ENSP00000604547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934487.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1491+2274G>T",
"hgvs_p": null,
"transcript": "NM_001170637.4",
"protein_id": "NP_001164108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": null,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170637.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1494+2274G>T",
"hgvs_p": null,
"transcript": "NM_001377444.1",
"protein_id": "NP_001364373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": null,
"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": "NM_001377444.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1494+2274G>T",
"hgvs_p": null,
"transcript": "NM_001377445.1",
"protein_id": "NP_001364374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": null,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377445.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1491+2274G>T",
"hgvs_p": null,
"transcript": "NM_001377446.1",
"protein_id": "NP_001364375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": null,
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"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377446.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1494+2274G>T",
"hgvs_p": null,
"transcript": "NM_001377447.1",
"protein_id": "NP_001364376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": null,
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"cds_length": 2373,
"cdna_start": null,
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"mane_select": null,
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"feature": "NM_001377447.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 13,
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"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1491+2274G>T",
"hgvs_p": null,
"transcript": "NM_001300952.2",
"protein_id": "NP_001287881.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "NM_001300952.2"
},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1491+2274G>T",
"hgvs_p": null,
"transcript": "ENST00000605610.5",
"protein_id": "ENSP00000473954.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "SRGAP2",
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"hgvs_c": "c.1494+2274G>T",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1491+2274G>T",
"hgvs_p": null,
"transcript": "XM_011509355.3",
"protein_id": "XP_011507657.1",
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},
{
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],
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"exon_count": 23,
"intron_rank": 12,
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"gene_symbol": "SRGAP2",
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"hgvs_c": "c.1401+2274G>T",
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"protein_id": "XP_024301782.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1401+2274G>T",
"hgvs_p": null,
"transcript": "XM_024446015.2",
"protein_id": "XP_024301783.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1494+2274G>T",
"hgvs_p": null,
"transcript": "XM_047416530.1",
"protein_id": "XP_047272486.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "SRGAP2",
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},
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],
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
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"transcript": "XM_047416532.1",
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},
{
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],
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"intron_rank": 10,
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"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1035+2274G>T",
"hgvs_p": null,
"transcript": "XM_047416533.1",
"protein_id": "XP_047272489.1",
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"biotype": "protein_coding",
"feature": "XM_047416533.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1401+2274G>T",
"hgvs_p": null,
"transcript": "XM_047416534.1",
"protein_id": "XP_047272490.1",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047416534.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 20,
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"gene_symbol": "SRGAP2",
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"transcript": "XM_047416535.1",
"protein_id": "XP_047272491.1",
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"aa_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416535.1"
}
],
"gene_symbol": "SRGAP2",
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"dbsnp": "rs6683027",
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"hom_count_reference_population": 4,
"allele_count_reference_population": 406,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00267239,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 406,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.195,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015326.5",
"gene_symbol": "SRGAP2",
"hgnc_id": 19751,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1494+2274G>T",
"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
}