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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: 14-105228832-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105228832&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 105228832,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000547530.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "NM_001519.4",
"protein_id": "NP_001510.2",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 677,
"cds_start": 776,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": "ENST00000547530.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "ENST00000547530.7",
"protein_id": "ENSP00000448387.2",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 677,
"cds_start": 776,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": "NM_001519.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Thr232Met",
"transcript": "ENST00000379937.6",
"protein_id": "ENSP00000369269.2",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 650,
"cds_start": 695,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Thr55Met",
"transcript": "ENST00000392557.8",
"protein_id": "ENSP00000376340.4",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 473,
"cds_start": 164,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Thr55Met",
"transcript": "ENST00000551787.5",
"protein_id": "ENSP00000446901.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 161,
"cds_start": 164,
"cds_end": null,
"cds_length": 486,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "NM_001440449.1",
"protein_id": "NP_001427378.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 676,
"cds_start": 776,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Thr232Met",
"transcript": "NM_001242788.2",
"protein_id": "NP_001229717.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 650,
"cds_start": 695,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Thr209Met",
"transcript": "NM_001440450.1",
"protein_id": "NP_001427379.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 627,
"cds_start": 626,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Thr144Met",
"transcript": "NM_001242786.2",
"protein_id": "NP_001229715.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 584,
"cds_start": 431,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Thr144Met",
"transcript": "ENST00000440513.7",
"protein_id": "ENSP00000388877.3",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 584,
"cds_start": 431,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Thr144Met",
"transcript": "NM_001242787.2",
"protein_id": "NP_001229716.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 562,
"cds_start": 431,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Thr144Met",
"transcript": "ENST00000327359.7",
"protein_id": "ENSP00000329029.3",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 562,
"cds_start": 431,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Thr94Met",
"transcript": "NM_001440451.1",
"protein_id": "NP_001427380.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 512,
"cds_start": 281,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "NM_001440452.1",
"protein_id": "NP_001427381.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
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"cds_start": 263,
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"cdna_start": 1420,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Met",
"transcript": "NM_001440453.1",
"protein_id": "NP_001427382.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 505,
"cds_start": 263,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Thr55Met",
"transcript": "NM_145685.3",
"protein_id": "NP_663718.1",
"transcript_support_level": null,
"aa_start": 55,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Thr38Met",
"transcript": "NM_001440454.1",
"protein_id": "NP_001427383.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 455,
"cds_start": 113,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Thr21Met",
"transcript": "NM_001242789.2",
"protein_id": "NP_001229718.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 439,
"cds_start": 62,
"cds_end": null,
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"cdna_start": 338,
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"cdna_length": 2861,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Thr21Met",
"transcript": "ENST00000446501.6",
"protein_id": "ENSP00000389859.2",
"transcript_support_level": 2,
"aa_start": 21,
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"aa_length": 439,
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"biotype": null,
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},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Thr55Met",
"transcript": "ENST00000549655.5",
"protein_id": "ENSP00000448723.2",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 233,
"cds_start": 164,
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"cdna_start": 1423,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Thr55Met",
"transcript": "ENST00000619151.4",
"protein_id": "ENSP00000480452.1",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 184,
"cds_start": 164,
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"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Thr112Met",
"transcript": "ENST00000546417.5",
"protein_id": "ENSP00000450258.1",
"transcript_support_level": 3,
"aa_start": 112,
"aa_end": null,
"aa_length": 183,
"cds_start": 335,
"cds_end": null,
"cds_length": 553,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Thr55Met",
"transcript": "ENST00000552127.5",
"protein_id": "ENSP00000449788.1",
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"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Cerebellar-facial-dental syndrome|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
],
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}