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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: 17-44349731-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44349731&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GRN",
"hgnc_id": 4601,
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_002087.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_score": -9,
"allele_count_reference_population": 111,
"alphamissense_prediction": null,
"alphamissense_score": 0.0569,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "17",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions,Inborn genetic diseases,Neuronal ceroid lipofuscinosis 11",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.018833279609680176,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 369,
"cds_end": null,
"cds_length": 1782,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002087.4",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000053867.8",
"protein_coding": true,
"protein_id": "NP_002078.1",
"strand": true,
"transcript": "NM_002087.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 369,
"cds_end": null,
"cds_length": 1782,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000053867.8",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002087.4",
"protein_coding": true,
"protein_id": "ENSP00000053867.2",
"strand": true,
"transcript": "ENST00000053867.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 432,
"cds_end": null,
"cds_length": 1782,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900927.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570986.1",
"strand": true,
"transcript": "ENST00000900927.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 522,
"cds_end": null,
"cds_length": 1782,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900929.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570988.1",
"strand": true,
"transcript": "ENST00000900929.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1782,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900931.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570990.1",
"strand": true,
"transcript": "ENST00000900931.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 406,
"cds_end": null,
"cds_length": 1782,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900932.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570991.1",
"strand": true,
"transcript": "ENST00000900932.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 612,
"cds_end": null,
"cds_length": 1782,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918283.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588342.1",
"strand": true,
"transcript": "ENST00000918283.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 633,
"cds_end": null,
"cds_length": 1782,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918285.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588344.1",
"strand": true,
"transcript": "ENST00000918285.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 445,
"cds_end": null,
"cds_length": 1782,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000918286.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588345.1",
"strand": true,
"transcript": "ENST00000918286.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1782,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000944506.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614565.1",
"strand": true,
"transcript": "ENST00000944506.1",
"transcript_support_level": null
},
{
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"aa_length": 593,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1782,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944507.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614566.1",
"strand": true,
"transcript": "ENST00000944507.1",
"transcript_support_level": null
},
{
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"aa_length": 577,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 325,
"cds_end": null,
"cds_length": 1734,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900934.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570993.1",
"strand": true,
"transcript": "ENST00000900934.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 373,
"cds_end": null,
"cds_length": 1722,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900930.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570989.1",
"strand": true,
"transcript": "ENST00000900930.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 411,
"cds_end": null,
"cds_length": 1710,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900928.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570987.1",
"strand": true,
"transcript": "ENST00000900928.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 568,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 369,
"cds_end": null,
"cds_length": 1707,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900935.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570994.1",
"strand": true,
"transcript": "ENST00000900935.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1671,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900926.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570985.1",
"strand": true,
"transcript": "ENST00000900926.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 511,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 369,
"cds_end": null,
"cds_length": 1536,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900933.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000570992.1",
"strand": true,
"transcript": "ENST00000900933.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": 369,
"cds_end": null,
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"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918284.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588343.1",
"strand": true,
"transcript": "ENST00000918284.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 366,
"cds_end": null,
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"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
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"feature": "ENST00000589265.5",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467616.1",
"strand": true,
"transcript": "ENST00000589265.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
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"aa_length": 190,
"aa_ref": "R",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 614,
"cdna_start": 411,
"cds_end": null,
"cds_length": 574,
"cds_start": 371,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000587387.5",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.371G>A",
"hgvs_p": "p.Arg124Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467431.1",
"strand": true,
"transcript": "ENST00000587387.5",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 162,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 546,
"cdna_start": 385,
"cds_end": null,
"cds_length": 490,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000588143.5",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
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