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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: 8-143580028-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143580028&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143580028,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032378.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "NM_001130053.5",
"protein_id": "NP_001123525.3",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000618139.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130053.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000618139.4",
"protein_id": "ENSP00000484536.2",
"transcript_support_level": 5,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130053.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618139.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.2039C>T",
"hgvs_p": "p.Thr680Ile",
"transcript": "ENST00000532741.5",
"protein_id": "ENSP00000434070.1",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 697,
"cds_start": 2039,
"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": "ENST00000532741.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000442189.6",
"protein_id": "ENSP00000391944.2",
"transcript_support_level": 1,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442189.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Thr264Ile",
"transcript": "ENST00000395119.7",
"protein_id": "ENSP00000378551.3",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 281,
"cds_start": 791,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395119.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Thr240Ile",
"transcript": "ENST00000528610.5",
"protein_id": "ENSP00000431763.1",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 257,
"cds_start": 719,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528610.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "NM_032378.7",
"protein_id": "NP_115754.4",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032378.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871803.1",
"protein_id": "ENSP00000541862.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871803.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871804.1",
"protein_id": "ENSP00000541863.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871804.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871805.1",
"protein_id": "ENSP00000541864.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871805.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871806.1",
"protein_id": "ENSP00000541865.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871806.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871807.1",
"protein_id": "ENSP00000541866.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871807.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871808.1",
"protein_id": "ENSP00000541867.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871808.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871809.1",
"protein_id": "ENSP00000541868.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871809.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871810.1",
"protein_id": "ENSP00000541869.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871810.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871811.1",
"protein_id": "ENSP00000541870.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871811.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871812.1",
"protein_id": "ENSP00000541871.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871812.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871813.1",
"protein_id": "ENSP00000541872.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871813.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871814.1",
"protein_id": "ENSP00000541873.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871814.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871815.1",
"protein_id": "ENSP00000541874.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871815.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871816.1",
"protein_id": "ENSP00000541875.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871816.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1D",
"gene_hgnc_id": 3211,
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Thr630Ile",
"transcript": "ENST00000871817.1",
"protein_id": "ENSP00000541876.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1944,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.709,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
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{
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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},
{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}