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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: 6-125815386-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=125815386&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 125815386,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000392477.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "NM_181782.5",
"protein_id": "NP_861447.3",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 942,
"cds_start": 32,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 6264,
"mane_select": "ENST00000392477.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "ENST00000392477.7",
"protein_id": "ENSP00000376269.2",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 942,
"cds_start": 32,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 6264,
"mane_select": "NM_181782.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "ENST00000368357.7",
"protein_id": "ENSP00000357341.3",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 942,
"cds_start": 32,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 5521,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "n.169A>C",
"hgvs_p": null,
"transcript": "ENST00000487635.1",
"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": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "NM_001199619.2",
"protein_id": "NP_001186548.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 942,
"cds_start": 32,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "NM_001199620.2",
"protein_id": "NP_001186549.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 942,
"cds_start": 32,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 6608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "NM_001122842.3",
"protein_id": "NP_001116314.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 931,
"cds_start": 32,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 6231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "ENST00000417494.5",
"protein_id": "ENSP00000406363.1",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 190,
"cds_start": 32,
"cds_end": null,
"cds_length": 573,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "ENST00000419660.1",
"protein_id": "ENSP00000408211.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 116,
"cds_start": 32,
"cds_end": null,
"cds_length": 351,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "ENST00000428318.1",
"protein_id": "ENSP00000407426.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 89,
"cds_start": 32,
"cds_end": null,
"cds_length": 271,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "ENST00000453302.5",
"protein_id": "ENSP00000403643.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 89,
"cds_start": 32,
"cds_end": null,
"cds_length": 271,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "XM_005266822.5",
"protein_id": "XP_005266879.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 942,
"cds_start": 32,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 6391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "XM_006715340.5",
"protein_id": "XP_006715403.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 942,
"cds_start": 32,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "XM_017010269.2",
"protein_id": "XP_016865758.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 942,
"cds_start": 32,
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"cdna_start": 216,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "XM_024446331.2",
"protein_id": "XP_024302099.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 942,
"cds_start": 32,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 6382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "XM_047418206.1",
"protein_id": "XP_047274162.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
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"cds_start": 32,
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"cdna_start": 2074,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "XM_017010270.2",
"protein_id": "XP_016865759.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 931,
"cds_start": 32,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 6457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"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": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "XM_017010272.3",
"protein_id": "XP_016865761.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 931,
"cds_start": 32,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 6349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "XM_017010273.3",
"protein_id": "XP_016865762.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
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"cds_start": 32,
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"cdna_start": 331,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "XM_017010274.3",
"protein_id": "XP_016865763.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 931,
"cds_start": 32,
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"cdna_start": 353,
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"cdna_length": 6380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "XM_024446332.2",
"protein_id": "XP_024302100.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 931,
"cds_start": 32,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 6575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.32A>C",
"hgvs_p": "p.Lys11Thr",
"transcript": "XM_047418207.1",
"protein_id": "XP_047274163.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 931,
"cds_start": 32,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 8101,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "n.204A>C",
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"transcript": "XR_007059204.1",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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{
"score": 0,
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}