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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: 7-92489350-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92489350&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92489350,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000466.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3710C>T",
"hgvs_p": "p.Ala1237Val",
"transcript": "NM_000466.3",
"protein_id": "NP_000457.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3710,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000248633.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000466.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3710C>T",
"hgvs_p": "p.Ala1237Val",
"transcript": "ENST00000248633.9",
"protein_id": "ENSP00000248633.4",
"transcript_support_level": 1,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3710,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000466.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248633.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3539C>T",
"hgvs_p": "p.Ala1180Val",
"transcript": "ENST00000428214.5",
"protein_id": "ENSP00000394413.1",
"transcript_support_level": 1,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3539,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428214.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3764C>T",
"hgvs_p": "p.Ala1255Val",
"transcript": "ENST00000951788.1",
"protein_id": "ENSP00000621847.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3764,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951788.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3707C>T",
"hgvs_p": "p.Ala1236Val",
"transcript": "ENST00000914336.1",
"protein_id": "ENSP00000584395.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3707,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914336.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3704C>T",
"hgvs_p": "p.Ala1235Val",
"transcript": "ENST00000914337.1",
"protein_id": "ENSP00000584396.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3704,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914337.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3710C>T",
"hgvs_p": "p.Ala1237Val",
"transcript": "ENST00000951786.1",
"protein_id": "ENSP00000621845.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3710,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951786.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3665C>T",
"hgvs_p": "p.Ala1222Val",
"transcript": "ENST00000951787.1",
"protein_id": "ENSP00000621846.1",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3665,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951787.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3629C>T",
"hgvs_p": "p.Ala1210Val",
"transcript": "ENST00000951789.1",
"protein_id": "ENSP00000621848.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3629,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951789.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3626C>T",
"hgvs_p": "p.Ala1209Val",
"transcript": "ENST00000951790.1",
"protein_id": "ENSP00000621849.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951790.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3590C>T",
"hgvs_p": "p.Ala1197Val",
"transcript": "ENST00000901045.1",
"protein_id": "ENSP00000571104.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901045.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3566C>T",
"hgvs_p": "p.Ala1189Val",
"transcript": "ENST00000914334.1",
"protein_id": "ENSP00000584393.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3566,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914334.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3539C>T",
"hgvs_p": "p.Ala1180Val",
"transcript": "NM_001282677.2",
"protein_id": "NP_001269606.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3539,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282677.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3512C>T",
"hgvs_p": "p.Ala1171Val",
"transcript": "ENST00000914335.1",
"protein_id": "ENSP00000584394.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3512,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914335.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3428C>T",
"hgvs_p": "p.Ala1143Val",
"transcript": "ENST00000914338.1",
"protein_id": "ENSP00000584397.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914338.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.3086C>T",
"hgvs_p": "p.Ala1029Val",
"transcript": "NM_001282678.2",
"protein_id": "NP_001269607.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1075,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282678.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.2744C>T",
"hgvs_p": "p.Ala915Val",
"transcript": "ENST00000438045.5",
"protein_id": "ENSP00000410438.1",
"transcript_support_level": 2,
"aa_start": 915,
"aa_end": null,
"aa_length": 961,
"cds_start": 2744,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438045.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ala654Val",
"transcript": "XM_047420473.1",
"protein_id": "XP_047276429.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 700,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420473.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "c.*21C>T",
"hgvs_p": null,
"transcript": "XM_047420472.1",
"protein_id": "XP_047276428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": null,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "n.445C>T",
"hgvs_p": null,
"transcript": "ENST00000477342.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000477342.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "n.3749C>T",
"hgvs_p": null,
"transcript": "ENST00000484913.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000484913.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX1",
"gene_hgnc_id": 8850,
"hgvs_c": "n.4760C>T",
"hgvs_p": null,
"transcript": "ENST00000496420.5",
"protein_id": null,
"transcript_support_level": 2,
"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,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000466.3",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ala1237Val"
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{
"score": 2,
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"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000658444.1",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 2,
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"verdict": "Uncertain_significance",
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],
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],
"clinvar_disease": "Zellweger spectrum disorders",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Zellweger spectrum disorders",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}