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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: 19-45414870-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45414870&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45414870,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000300853.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001983.4",
"protein_id": "NP_001974.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 297,
"cds_start": 693,
"cds_end": null,
"cds_length": 894,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": "ENST00000300853.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "ENST00000300853.8",
"protein_id": "ENSP00000300853.3",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 297,
"cds_start": 693,
"cds_end": null,
"cds_length": 894,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": "NM_001983.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "ENST00000013807.9",
"protein_id": "ENSP00000013807.4",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 323,
"cds_start": 693,
"cds_end": null,
"cds_length": 972,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "ENST00000340192.11",
"protein_id": "ENSP00000345203.6",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 273,
"cds_start": 693,
"cds_end": null,
"cds_length": 822,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369408.1",
"protein_id": "NP_001356337.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 323,
"cds_start": 693,
"cds_end": null,
"cds_length": 972,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369409.1",
"protein_id": "NP_001356338.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 323,
"cds_start": 693,
"cds_end": null,
"cds_length": 972,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_202001.3",
"protein_id": "NP_973730.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 323,
"cds_start": 693,
"cds_end": null,
"cds_length": 972,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369410.1",
"protein_id": "NP_001356339.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 299,
"cds_start": 693,
"cds_end": null,
"cds_length": 900,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369411.1",
"protein_id": "NP_001356340.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 299,
"cds_start": 693,
"cds_end": null,
"cds_length": 900,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369412.1",
"protein_id": "NP_001356341.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 297,
"cds_start": 693,
"cds_end": null,
"cds_length": 894,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369413.1",
"protein_id": "NP_001356342.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 297,
"cds_start": 693,
"cds_end": null,
"cds_length": 894,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369414.1",
"protein_id": "NP_001356343.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 297,
"cds_start": 693,
"cds_end": null,
"cds_length": 894,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369415.1",
"protein_id": "NP_001356344.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 297,
"cds_start": 693,
"cds_end": null,
"cds_length": 894,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369416.1",
"protein_id": "NP_001356345.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 297,
"cds_start": 693,
"cds_end": null,
"cds_length": 894,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "ENST00000589165.5",
"protein_id": "ENSP00000468035.1",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 297,
"cds_start": 693,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001166049.2",
"protein_id": "NP_001159521.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 273,
"cds_start": 693,
"cds_end": null,
"cds_length": 822,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369417.1",
"protein_id": "NP_001356346.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 273,
"cds_start": 693,
"cds_end": null,
"cds_length": 822,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369418.1",
"protein_id": "NP_001356347.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 273,
"cds_start": 693,
"cds_end": null,
"cds_length": 822,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "NM_001369419.1",
"protein_id": "NP_001356348.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 273,
"cds_start": 693,
"cds_end": null,
"cds_length": 822,
"cdna_start": 847,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "ENST00000592083.5",
"protein_id": "ENSP00000467183.1",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 257,
"cds_start": 693,
"cds_end": null,
"cds_length": 774,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "ENST00000592023.5",
"protein_id": "ENSP00000468158.1",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 233,
"cds_start": 693,
"cds_end": null,
"cds_length": 702,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.477C>T",
"hgvs_p": "p.Phe159Phe",
"transcript": "ENST00000423698.6",
"protein_id": "ENSP00000394875.2",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 225,
"cds_start": 477,
"cds_end": null,
"cds_length": 678,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.477C>T",
"hgvs_p": "p.Phe159Phe",
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}