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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: 3-70977675-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=70977675&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 70977675,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000647725.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "NM_001349338.3",
"protein_id": "NP_001336267.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "ENST00000649528.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "ENST00000649528.3",
"protein_id": "ENSP00000497369.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "NM_001349338.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "ENST00000318789.11",
"protein_id": "ENSP00000318902.5",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 7103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285708",
"gene_hgnc_id": null,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "ENST00000647725.1",
"protein_id": "ENSP00000497585.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.835C>G",
"hgvs_p": "p.Pro279Ala",
"transcript": "ENST00000475937.6",
"protein_id": "ENSP00000419393.2",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 490,
"cds_start": 835,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.835C>G",
"hgvs_p": "p.Pro279Ala",
"transcript": "ENST00000497355.7",
"protein_id": "ENSP00000418225.3",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 490,
"cds_start": 835,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "NM_001244810.2",
"protein_id": "NP_001231739.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 693,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "ENST00000648426.1",
"protein_id": "ENSP00000498110.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 693,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "NM_001244814.3",
"protein_id": "NP_001231743.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "NM_001244816.2",
"protein_id": "NP_001231745.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 7004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "NM_001349340.3",
"protein_id": "NP_001336269.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 7082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "NM_032682.6",
"protein_id": "NP_116071.2",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "ENST00000498215.7",
"protein_id": "ENSP00000418102.1",
"transcript_support_level": 2,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "ENST00000648380.1",
"protein_id": "ENSP00000497344.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "ENST00000649631.1",
"protein_id": "ENSP00000496990.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Pro466Ala",
"transcript": "ENST00000650068.2",
"protein_id": "ENSP00000497454.2",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 677,
"cds_start": 1396,
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"cds_length": 2034,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1393C>G",
"hgvs_p": "p.Pro465Ala",
"transcript": "NM_001244808.3",
"protein_id": "NP_001231737.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 676,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 7174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1393C>G",
"hgvs_p": "p.Pro465Ala",
"transcript": "NM_001349341.3",
"protein_id": "NP_001336270.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 676,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 7174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1393C>G",
"hgvs_p": "p.Pro465Ala",
"transcript": "ENST00000493089.7",
"protein_id": "ENSP00000418524.1",
"transcript_support_level": 2,
"aa_start": 465,
"aa_end": null,
"aa_length": 676,
"cds_start": 1393,
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"cdna_start": 2025,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1393C>G",
"hgvs_p": "p.Pro465Ala",
"transcript": "ENST00000648710.2",
"protein_id": "ENSP00000497430.2",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 676,
"cds_start": 1393,
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"cdna_start": 1990,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1393C>G",
"hgvs_p": "p.Pro465Ala",
"transcript": "ENST00000648718.1",
"protein_id": "ENSP00000496810.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 676,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1393C>G",
"hgvs_p": "p.Pro465Ala",
"transcript": "ENST00000649610.2",
"protein_id": "ENSP00000497693.2",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 676,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.1390C>G",
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 12,
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"pathogenic_score": 12,
"criteria": [
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"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000647725.1",
"gene_symbol": "ENSG00000285708",
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"effects": [
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],
"inheritance_mode": "",
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"hgvs_p": "p.Pro466Ala"
},
{
"score": 12,
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"pathogenic_score": 12,
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"PM5",
"PP3_Strong",
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],
"verdict": "Pathogenic",
"transcript": "ENST00000649528.3",
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "Anterior creases of earlobe,Delayed speech and language development,Glabellar hemangioma,Intellectual disability,Strabismus",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Intellectual disability;Anterior creases of earlobe;Delayed speech and language development;Strabismus;Glabellar hemangioma",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}