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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: 1-3727704-G-GACC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3727704&ref=G&alt=GACC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3727704,
"ref": "G",
"alt": "GACC",
"effect": "conservative_inframe_insertion",
"transcript": "NM_005427.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "NM_005427.4",
"protein_id": "NP_005418.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 636,
"cds_start": 925,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378295.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005427.4"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "ENST00000378295.9",
"protein_id": "ENSP00000367545.4",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 636,
"cds_start": 925,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005427.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378295.9"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.775_777dupCAC",
"hgvs_p": "p.His259dup",
"transcript": "ENST00000378288.8",
"protein_id": "ENSP00000367537.4",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 587,
"cds_start": 778,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378288.8"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.775_777dupCAC",
"hgvs_p": "p.His259dup",
"transcript": "ENST00000378285.5",
"protein_id": "ENSP00000367534.1",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 450,
"cds_start": 778,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378285.5"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.775_777dupCAC",
"hgvs_p": "p.His259dup",
"transcript": "ENST00000378280.5",
"protein_id": "ENSP00000367529.1",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 426,
"cds_start": 778,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378280.5"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "ENST00000713570.1",
"protein_id": "ENSP00000518863.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 636,
"cds_start": 925,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713570.1"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "ENST00000713572.1",
"protein_id": "ENSP00000518864.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 636,
"cds_start": 925,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713572.1"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "ENST00000917569.1",
"protein_id": "ENSP00000587628.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 636,
"cds_start": 925,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917569.1"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.775_777dupCAC",
"hgvs_p": "p.His259dup",
"transcript": "NM_001126240.3",
"protein_id": "NP_001119712.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 587,
"cds_start": 778,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126240.3"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.709_711dupCAC",
"hgvs_p": "p.His237dup",
"transcript": "NM_001204192.2",
"protein_id": "NP_001191121.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 565,
"cds_start": 712,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204192.2"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.709_711dupCAC",
"hgvs_p": "p.His237dup",
"transcript": "ENST00000378290.4",
"protein_id": "ENSP00000367539.4",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 565,
"cds_start": 712,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378290.4"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "NM_001204187.2",
"protein_id": "NP_001191116.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 555,
"cds_start": 925,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204187.2"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "ENST00000603362.6",
"protein_id": "ENSP00000474626.1",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 555,
"cds_start": 925,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603362.6"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "ENST00000908821.1",
"protein_id": "ENSP00000578880.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 555,
"cds_start": 925,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908821.1"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "ENST00000917568.1",
"protein_id": "ENSP00000587627.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 555,
"cds_start": 925,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917568.1"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "NM_001204188.2",
"protein_id": "NP_001191117.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 540,
"cds_start": 925,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204188.2"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "ENST00000604479.6",
"protein_id": "ENSP00000474322.1",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 540,
"cds_start": 925,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604479.6"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.775_777dupCAC",
"hgvs_p": "p.His259dup",
"transcript": "NM_001204190.2",
"protein_id": "NP_001191119.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 506,
"cds_start": 778,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204190.2"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "NM_001204184.2",
"protein_id": "NP_001191113.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 499,
"cds_start": 925,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204184.2"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "ENST00000354437.8",
"protein_id": "ENSP00000346423.4",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 499,
"cds_start": 925,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354437.8"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.775_777dupCAC",
"hgvs_p": "p.His259dup",
"transcript": "NM_001204191.2",
"protein_id": "NP_001191120.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 491,
"cds_start": 778,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204191.2"
},
{
"aa_ref": "Y",
"aa_alt": "HY",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.922_924dupCAC",
"hgvs_p": "p.His308dup",
"transcript": "NM_001204185.2",
"protein_id": "NP_001191114.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 475,
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"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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{
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"verdict": "Uncertain_significance",
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"custom_annotations": null
}
],
"message": null
}