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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: 2-177230887-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177230887&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177230887,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_006164.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1716T>C",
"hgvs_p": "p.Asp572Asp",
"transcript": "NM_006164.5",
"protein_id": "NP_006155.2",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 605,
"cds_start": 1716,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397062.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006164.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1716T>C",
"hgvs_p": "p.Asp572Asp",
"transcript": "ENST00000397062.8",
"protein_id": "ENSP00000380252.3",
"transcript_support_level": 1,
"aa_start": 572,
"aa_end": null,
"aa_length": 605,
"cds_start": 1716,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006164.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397062.8"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1668T>C",
"hgvs_p": "p.Asp556Asp",
"transcript": "ENST00000397063.9",
"protein_id": "ENSP00000380253.4",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 589,
"cds_start": 1668,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397063.9"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1668T>C",
"hgvs_p": "p.Asp556Asp",
"transcript": "ENST00000421929.6",
"protein_id": "ENSP00000412191.2",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 589,
"cds_start": 1668,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421929.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1668T>C",
"hgvs_p": "p.Asp556Asp",
"transcript": "ENST00000448782.6",
"protein_id": "ENSP00000400073.2",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 589,
"cds_start": 1668,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448782.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1647T>C",
"hgvs_p": "p.Asp549Asp",
"transcript": "ENST00000446151.6",
"protein_id": "ENSP00000411575.2",
"transcript_support_level": 1,
"aa_start": 549,
"aa_end": null,
"aa_length": 582,
"cds_start": 1647,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446151.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "n.2855T>C",
"hgvs_p": null,
"transcript": "ENST00000423513.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000423513.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "n.3137T>C",
"hgvs_p": null,
"transcript": "ENST00000477534.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477534.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1854T>C",
"hgvs_p": "p.Asp618Asp",
"transcript": "ENST00000699346.1",
"protein_id": "ENSP00000514321.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 651,
"cds_start": 1854,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699346.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"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": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000586532.6",
"protein_id": "ENSP00000464920.2",
"transcript_support_level": 5,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586532.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699265.1",
"protein_id": "ENSP00000514246.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699265.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699301.1",
"protein_id": "ENSP00000514281.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699301.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699303.1",
"protein_id": "ENSP00000514283.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699303.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699304.1",
"protein_id": "ENSP00000514284.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699304.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699305.1",
"protein_id": "ENSP00000514285.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699305.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699331.1",
"protein_id": "ENSP00000514305.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699331.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699345.1",
"protein_id": "ENSP00000514320.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699345.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699348.1",
"protein_id": "ENSP00000514323.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699348.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699350.1",
"protein_id": "ENSP00000514324.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699350.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699406.1",
"protein_id": "ENSP00000514367.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699406.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"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": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699410.1",
"protein_id": "ENSP00000514371.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699410.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Asp571Asp",
"transcript": "ENST00000699435.1",
"protein_id": "ENSP00000514387.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 604,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
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"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"hgvs_c": "n.549+1505T>C",
"hgvs_p": null,
"transcript": "ENST00000699432.1",
"protein_id": "ENSP00000514385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699432.1"
}
],
"gene_symbol": "NFE2L2",
"gene_hgnc_id": 7782,
"dbsnp": "rs753313785",
"frequency_reference_population": 0.000013631576,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000143669,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.056,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006164.5",
"gene_symbol": "NFE2L2",
"hgnc_id": 7782,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1716T>C",
"hgvs_p": "p.Asp572Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}