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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: 17-41769459-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41769459&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41769459,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000393931.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "NM_002230.4",
"protein_id": "NP_002221.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "ENST00000393931.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "ENST00000393931.8",
"protein_id": "ENSP00000377508.3",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "NM_002230.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "ENST00000310706.9",
"protein_id": "ENSP00000311113.5",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "NM_001352773.2",
"protein_id": "NP_001339702.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "NM_001352774.2",
"protein_id": "NP_001339703.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "NM_001352775.2",
"protein_id": "NP_001339704.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "NM_001352776.2",
"protein_id": "NP_001339705.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "NM_001352777.2",
"protein_id": "NP_001339706.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "NM_021991.4",
"protein_id": "NP_068831.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "ENST00000393930.5",
"protein_id": "ENSP00000377507.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "ENST00000449889.5",
"protein_id": "ENSP00000389886.1",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 296,
"cds_start": 427,
"cds_end": null,
"cds_length": 893,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "ENST00000437187.5",
"protein_id": "ENSP00000394146.1",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 294,
"cds_start": 427,
"cds_end": null,
"cds_length": 887,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "ENST00000420370.5",
"protein_id": "ENSP00000411449.1",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 275,
"cds_start": 427,
"cds_end": null,
"cds_length": 830,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "ENST00000424457.5",
"protein_id": "ENSP00000401034.1",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 234,
"cds_start": 427,
"cds_end": null,
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"cdna_start": 669,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Ala160Ser",
"transcript": "XM_047435934.1",
"protein_id": "XP_047291890.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 762,
"cds_start": 478,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Ala160Ser",
"transcript": "XM_047435935.1",
"protein_id": "XP_047291891.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 762,
"cds_start": 478,
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"cdna_start": 961,
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"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Ala160Ser",
"transcript": "XM_047435937.1",
"protein_id": "XP_047291893.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 762,
"cds_start": 478,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "XM_006721874.4",
"protein_id": "XP_006721937.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "XM_006721875.2",
"protein_id": "XP_006721938.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
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"cdna_start": 644,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "XM_011524758.2",
"protein_id": "XP_011523060.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
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"cdna_start": 506,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "XM_017024590.2",
"protein_id": "XP_016880079.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
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"cdna_start": 540,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "XM_047435938.1",
"protein_id": "XP_047291894.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 745,
"cds_start": 427,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JUP",
"gene_hgnc_id": 6207,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Ala143Ser",
"transcript": "XM_047435939.1",
"protein_id": "XP_047291895.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}