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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: 16-89512999-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89512999&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89512999,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003119.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "NM_003119.4",
"protein_id": "NP_003110.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 795,
"cds_start": 338,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "ENST00000645818.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000645818.2",
"protein_id": "ENSP00000495795.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 795,
"cds_start": 338,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "NM_003119.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000268704.7",
"protein_id": "ENSP00000268704.3",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 788,
"cds_start": 338,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000341316.6",
"protein_id": "ENSP00000341157.2",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 489,
"cds_start": 338,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.202A>G",
"hgvs_p": null,
"transcript": "ENST00000562775.2",
"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": 1534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "NM_001363850.1",
"protein_id": "NP_001350779.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 809,
"cds_start": 338,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000645063.1",
"protein_id": "ENSP00000493590.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 809,
"cds_start": 338,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000644781.1",
"protein_id": "ENSP00000495473.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 780,
"cds_start": 338,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000643649.1",
"protein_id": "ENSP00000494806.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 758,
"cds_start": 338,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Lys69Arg",
"transcript": "ENST00000646303.1",
"protein_id": "ENSP00000494160.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 751,
"cds_start": 206,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000645897.1",
"protein_id": "ENSP00000495293.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 641,
"cds_start": 338,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000643307.1",
"protein_id": "ENSP00000495673.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 507,
"cds_start": 338,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000646716.1",
"protein_id": "ENSP00000495593.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 493,
"cds_start": 338,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "NM_199367.3",
"protein_id": "NP_955399.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 489,
"cds_start": 338,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.143A>G",
"hgvs_p": "p.Lys48Arg",
"transcript": "ENST00000646445.1",
"protein_id": "ENSP00000496434.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 414,
"cds_start": 143,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "ENST00000566371.6",
"protein_id": "ENSP00000454475.2",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 237,
"cds_start": 338,
"cds_end": null,
"cds_length": 716,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "XM_017023598.2",
"protein_id": "XP_016879087.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 561,
"cds_start": 338,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "XM_047434538.1",
"protein_id": "XP_047290494.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 511,
"cds_start": 338,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "XM_047434539.1",
"protein_id": "XP_047290495.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 470,
"cds_start": 338,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Lys113Arg",
"transcript": "XM_005256321.5",
"protein_id": "XP_005256378.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 463,
"cds_start": 338,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.347A>G",
"hgvs_p": null,
"transcript": "ENST00000564047.2",
"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": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.107A>G",
"hgvs_p": null,
"transcript": "ENST00000564409.2",
"protein_id": "ENSP00000495297.1",
"transcript_support_level": 3,
"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": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.434A>G",
"hgvs_p": null,
"transcript": "ENST00000568151.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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],
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"computational_score_selected": 0.027846336364746094,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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{
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"verdict": "Likely_benign",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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],
"clinvar_disease": "Hereditary spastic paraplegia 7,Inborn genetic diseases",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Hereditary spastic paraplegia 7|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}