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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: 1-206401509-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=206401509&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SRGAP2",
"hgnc_id": 19751,
"hgvs_c": "c.920A>T",
"hgvs_p": "p.His307Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_015326.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.3598,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.26865339279174805,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "H",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6884,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 3216,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_015326.5",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.920A>T",
"hgvs_p": "p.His307Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000573034.8",
"protein_coding": true,
"protein_id": "NP_056141.2",
"strand": true,
"transcript": "NM_015326.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "H",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6884,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 3216,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000573034.8",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.920A>T",
"hgvs_p": "p.His307Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015326.5",
"protein_coding": true,
"protein_id": "ENSP00000459615.2",
"strand": true,
"transcript": "ENST00000573034.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "H",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4705,
"cdna_start": 979,
"cds_end": null,
"cds_length": 3213,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000624873.3",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.917A>T",
"hgvs_p": "p.His306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485517.1",
"strand": true,
"transcript": "ENST00000624873.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1083,
"aa_ref": "H",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6920,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 3252,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934486.1",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.917A>T",
"hgvs_p": "p.His306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604545.1",
"strand": true,
"transcript": "ENST00000934486.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "H",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6795,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 3216,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000934487.1",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.920A>T",
"hgvs_p": "p.His307Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604547.1",
"strand": true,
"transcript": "ENST00000934487.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "H",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6881,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 3213,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001170637.4",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.917A>T",
"hgvs_p": "p.His306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164108.1",
"strand": true,
"transcript": "NM_001170637.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 973,
"aa_ref": "H",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6979,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 2922,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001377444.1",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.920A>T",
"hgvs_p": "p.His307Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364373.1",
"strand": true,
"transcript": "NM_001377444.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 841,
"aa_ref": "H",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3546,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 2526,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001377445.1",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.920A>T",
"hgvs_p": "p.His307Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364374.1",
"strand": true,
"transcript": "NM_001377445.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 840,
"aa_ref": "H",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2523,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001377446.1",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.917A>T",
"hgvs_p": "p.His306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364375.1",
"strand": true,
"transcript": "NM_001377446.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 790,
"aa_ref": "H",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5028,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 2373,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001377447.1",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.920A>T",
"hgvs_p": "p.His307Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364376.1",
"strand": true,
"transcript": "NM_001377447.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 789,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5025,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2370,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001300952.2",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.917A>T",
"hgvs_p": "p.His306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287881.1",
"strand": true,
"transcript": "NM_001300952.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 789,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 2370,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000605610.5",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.917A>T",
"hgvs_p": "p.His306Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473954.1",
"strand": true,
"transcript": "ENST00000605610.5",
"transcript_support_level": 2
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 906,
"cds_end": null,
"cds_length": 918,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
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"feature": "ENST00000419187.6",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.458A>T",
"hgvs_p": "p.His153Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397990.3",
"strand": true,
"transcript": "ENST00000419187.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
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"aa_length": 1084,
"aa_ref": "H",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6923,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 3255,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011509354.3",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.920A>T",
"hgvs_p": "p.His307Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507656.1",
"strand": true,
"transcript": "XM_011509354.3",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"cdna_start": 1569,
"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011509355.3",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.917A>T",
"hgvs_p": "p.His306Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507657.1",
"strand": true,
"transcript": "XM_011509355.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1053,
"aa_ref": "H",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6541,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 3162,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_024446014.2",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.827A>T",
"hgvs_p": "p.His276Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024301782.1",
"strand": true,
"transcript": "XM_024446014.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1053,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6777,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 3162,
"cds_start": 827,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 7,
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"feature": "XM_024446015.2",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.827A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024301783.1",
"strand": true,
"transcript": "XM_024446015.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"exon_rank": 8,
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"feature": "XM_047416530.1",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.920A>T",
"hgvs_p": "p.His307Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047272486.1",
"strand": true,
"transcript": "XM_047416530.1",
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},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_start": 1569,
"cds_end": null,
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"consequences": [
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],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416531.1",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.917A>T",
"hgvs_p": "p.His306Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272487.1",
"strand": true,
"transcript": "XM_047416531.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 931,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6863,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 2796,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047416532.1",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.461A>T",
"hgvs_p": "p.His154Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272488.1",
"strand": true,
"transcript": "XM_047416532.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 931,
"aa_ref": "H",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6457,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 2796,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047416533.1",
"gene_hgnc_id": 19751,
"gene_symbol": "SRGAP2",
"hgvs_c": "c.461A>T",
"hgvs_p": "p.His154Leu",
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