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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: 3-100748342-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=100748342&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 100748342,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006070.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "NM_006070.6",
"protein_id": "NP_006061.2",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "ENST00000240851.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006070.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000240851.9",
"protein_id": "ENSP00000240851.4",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "NM_006070.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240851.9"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1002T>G",
"hgvs_p": "p.Asn334Lys",
"transcript": "ENST00000476228.5",
"protein_id": "ENSP00000417952.1",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 396,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476228.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.*200T>G",
"hgvs_p": null,
"transcript": "ENST00000615993.2",
"protein_id": "ENSP00000479269.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615993.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1050T>G",
"hgvs_p": "p.Asn350Lys",
"transcript": "ENST00000675692.1",
"protein_id": "ENSP00000502034.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 412,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675692.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1047T>G",
"hgvs_p": "p.Asn349Lys",
"transcript": "ENST00000873440.1",
"protein_id": "ENSP00000543499.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 411,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873440.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1041T>G",
"hgvs_p": "p.Asn347Lys",
"transcript": "ENST00000873441.1",
"protein_id": "ENSP00000543500.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 409,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873441.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "NM_001007565.2",
"protein_id": "NP_001007566.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007565.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "NM_001195478.2",
"protein_id": "NP_001182407.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195478.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000487505.6",
"protein_id": "ENSP00000420797.2",
"transcript_support_level": 3,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487505.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000490574.6",
"protein_id": "ENSP00000419960.1",
"transcript_support_level": 3,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490574.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000674615.1",
"protein_id": "ENSP00000502734.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674615.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000675243.1",
"protein_id": "ENSP00000502592.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675243.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000675499.1",
"protein_id": "ENSP00000502450.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675499.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000675553.1",
"protein_id": "ENSP00000501815.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675553.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000676395.1",
"protein_id": "ENSP00000502071.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676395.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000873442.1",
"protein_id": "ENSP00000543501.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873442.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000917751.1",
"protein_id": "ENSP00000587810.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917751.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000917752.1",
"protein_id": "ENSP00000587811.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917752.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000917753.1",
"protein_id": "ENSP00000587812.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917753.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000917757.1",
"protein_id": "ENSP00000587816.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917757.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFG",
"gene_hgnc_id": 11758,
"hgvs_c": "c.1014T>G",
"hgvs_p": "p.Asn338Lys",
"transcript": "ENST00000917758.1",
"protein_id": "ENSP00000587817.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 400,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1203,
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],
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"computational_score_selected": 0.20898836851119995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006070.6",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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],
"clinvar_disease": " Okinawa type,Hereditary motor and sensory neuropathy,Hereditary spastic paraplegia 57",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary motor and sensory neuropathy, Okinawa type;Hereditary spastic paraplegia 57",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}