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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: 20-62197941-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62197941&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 62197941,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001384347.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "NM_015666.4",
"protein_id": "NP_056481.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370823.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015666.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000370823.8",
"protein_id": "ENSP00000359859.3",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015666.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370823.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "n.353-693C>T",
"hgvs_p": null,
"transcript": "ENST00000467101.5",
"protein_id": "ENSP00000435214.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000467101.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "NM_001384347.1",
"protein_id": "NP_001371276.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 424,
"cds_start": 496,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384347.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "ENST00000948274.1",
"protein_id": "ENSP00000618333.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 424,
"cds_start": 496,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948274.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000881344.1",
"protein_id": "ENSP00000551403.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881344.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000881345.1",
"protein_id": "ENSP00000551404.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881345.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000881346.1",
"protein_id": "ENSP00000551405.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881346.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000881347.1",
"protein_id": "ENSP00000551406.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881347.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000881348.1",
"protein_id": "ENSP00000551407.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881348.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000881349.1",
"protein_id": "ENSP00000551408.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881349.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000931516.1",
"protein_id": "ENSP00000601575.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931516.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000931517.1",
"protein_id": "ENSP00000601576.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931517.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000948275.1",
"protein_id": "ENSP00000618334.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948275.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000948276.1",
"protein_id": "ENSP00000618335.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948276.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "NM_001384348.1",
"protein_id": "NP_001371277.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 327,
"cds_start": 442,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384348.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "ENST00000448254.1",
"protein_id": "ENSP00000414693.1",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 232,
"cds_start": 442,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448254.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"transcript": "XM_017027805.2",
"protein_id": "XP_016883294.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 434,
"cds_start": 526,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027805.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Cys",
"transcript": "XM_024451869.2",
"protein_id": "XP_024307637.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 422,
"cds_start": 490,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451869.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Arg148Cys",
"transcript": "XM_047440103.1",
"protein_id": "XP_047296059.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 442,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440103.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"transcript": "XM_047440104.1",
"protein_id": "XP_047296060.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 355,
"cds_start": 526,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG2",
"gene_hgnc_id": 16239,
"hgvs_c": "n.727C>T",
"hgvs_p": null,
"transcript": "ENST00000461411.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000461411.1"
},
{
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_001384347.1",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}