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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: 21-41452806-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=41452806&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 41452806,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_002462.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "NM_002462.5",
"protein_id": "NP_002453.2",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398598.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002462.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "ENST00000398598.8",
"protein_id": "ENSP00000381599.3",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002462.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398598.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "ENST00000455164.6",
"protein_id": "ENSP00000410523.2",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455164.6"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "n.502G>A",
"hgvs_p": null,
"transcript": "ENST00000491110.1",
"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": "ENST00000491110.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Gln605Gln",
"transcript": "ENST00000896042.1",
"protein_id": "ENSP00000566101.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 702,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896042.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1800G>A",
"hgvs_p": "p.Gln600Gln",
"transcript": "ENST00000896043.1",
"protein_id": "ENSP00000566102.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 697,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896043.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1725G>A",
"hgvs_p": "p.Gln575Gln",
"transcript": "ENST00000896039.1",
"protein_id": "ENSP00000566098.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 672,
"cds_start": 1725,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896039.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "NM_001144925.2",
"protein_id": "NP_001138397.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144925.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "NM_001178046.3",
"protein_id": "NP_001171517.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178046.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "NM_001438334.1",
"protein_id": "NP_001425263.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438334.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "NM_001438335.1",
"protein_id": "NP_001425264.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438335.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "NM_001438336.1",
"protein_id": "NP_001425265.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438336.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "NM_001438337.1",
"protein_id": "NP_001425266.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438337.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "ENST00000398600.6",
"protein_id": "ENSP00000381601.2",
"transcript_support_level": 2,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398600.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "ENST00000413778.6",
"protein_id": "ENSP00000408498.2",
"transcript_support_level": 5,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413778.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "ENST00000417963.6",
"protein_id": "ENSP00000402215.2",
"transcript_support_level": 5,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417963.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "ENST00000419044.6",
"protein_id": "ENSP00000392151.2",
"transcript_support_level": 3,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419044.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "ENST00000679445.1",
"protein_id": "ENSP00000505630.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679445.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "ENST00000679464.1",
"protein_id": "ENSP00000505874.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679464.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "ENST00000679543.1",
"protein_id": "ENSP00000505047.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679543.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "ENST00000679626.1",
"protein_id": "ENSP00000506481.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679626.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Gln565Gln",
"transcript": "ENST00000679705.1",
"protein_id": "ENSP00000506372.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 662,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP7",
"BA1"
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"verdict": "Benign",
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"inheritance_mode": "",
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"custom_annotations": null
}
],
"message": null
}