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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: 11-6616357-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6616357&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 6616357,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000391.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.1033A>C",
"hgvs_p": "p.Met345Leu",
"transcript": "NM_000391.4",
"protein_id": "NP_000382.3",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 563,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299427.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000391.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.1033A>C",
"hgvs_p": "p.Met345Leu",
"transcript": "ENST00000299427.12",
"protein_id": "ENSP00000299427.6",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 563,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000391.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299427.12"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.304A>C",
"hgvs_p": "p.Met102Leu",
"transcript": "ENST00000533371.6",
"protein_id": "ENSP00000437066.1",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 320,
"cds_start": 304,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533371.6"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.1033A>C",
"hgvs_p": "p.Met345Leu",
"transcript": "ENST00000895469.1",
"protein_id": "ENSP00000565528.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 562,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895469.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.1033A>C",
"hgvs_p": "p.Met345Leu",
"transcript": "ENST00000895471.1",
"protein_id": "ENSP00000565530.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 537,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895471.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.1033A>C",
"hgvs_p": "p.Met345Leu",
"transcript": "ENST00000895470.1",
"protein_id": "ENSP00000565529.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 532,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895470.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.919A>C",
"hgvs_p": "p.Met307Leu",
"transcript": "ENST00000682424.1",
"protein_id": "ENSP00000507321.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 525,
"cds_start": 919,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682424.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.754A>C",
"hgvs_p": "p.Met252Leu",
"transcript": "ENST00000644810.1",
"protein_id": "ENSP00000495895.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 470,
"cds_start": 754,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644810.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.541A>C",
"hgvs_p": "p.Met181Leu",
"transcript": "ENST00000643516.1",
"protein_id": "ENSP00000496372.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 399,
"cds_start": 541,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643516.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.376A>C",
"hgvs_p": "p.Met126Leu",
"transcript": "ENST00000931962.1",
"protein_id": "ENSP00000602021.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 344,
"cds_start": 376,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931962.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.304A>C",
"hgvs_p": "p.Met102Leu",
"transcript": "ENST00000642892.1",
"protein_id": "ENSP00000494165.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 320,
"cds_start": 304,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642892.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.304A>C",
"hgvs_p": "p.Met102Leu",
"transcript": "ENST00000645620.1",
"protein_id": "ENSP00000493657.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 320,
"cds_start": 304,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645620.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.304A>C",
"hgvs_p": "p.Met102Leu",
"transcript": "ENST00000647152.1",
"protein_id": "ENSP00000495893.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 320,
"cds_start": 304,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647152.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.887-283A>C",
"hgvs_p": null,
"transcript": "ENST00000644218.1",
"protein_id": "ENSP00000493574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": null,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.90-795A>C",
"hgvs_p": null,
"transcript": "ENST00000895468.1",
"protein_id": "ENSP00000565527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": null,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895468.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "c.311-283A>C",
"hgvs_p": null,
"transcript": "ENST00000436873.7",
"protein_id": "ENSP00000398136.3",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436873.7"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285338",
"gene_hgnc_id": null,
"hgvs_c": "n.238A>C",
"hgvs_p": null,
"transcript": "ENST00000532191.2",
"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": "ENST00000532191.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.121A>C",
"hgvs_p": null,
"transcript": "ENST00000643342.1",
"protein_id": "ENSP00000494324.1",
"transcript_support_level": null,
"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": "ENST00000643342.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.*773A>C",
"hgvs_p": null,
"transcript": "ENST00000643439.1",
"protein_id": "ENSP00000495849.1",
"transcript_support_level": null,
"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": "ENST00000643439.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.1219A>C",
"hgvs_p": null,
"transcript": "ENST00000643479.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000643479.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.*486A>C",
"hgvs_p": null,
"transcript": "ENST00000644683.1",
"protein_id": "ENSP00000494085.1",
"transcript_support_level": null,
"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": "ENST00000644683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPP1",
"gene_hgnc_id": 2073,
"hgvs_c": "n.1209A>C",
"hgvs_p": null,
"transcript": "ENST00000644831.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000644831.1"
},
{
"aa_ref": null,
"aa_alt": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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{
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"benign_score": 20,
"pathogenic_score": 2,
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"BP6_Very_Strong",
"BS1",
"BS2"
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Met345Leu"
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{
"score": -16,
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"verdict": "Benign",
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"effects": [
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],
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"hgvs_c": "n.238A>C",
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],
"clinvar_disease": "Autosomal recessive spinocerebellar ataxia 7,Neuronal ceroid lipofuscinosis 2,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:3",
"phenotype_combined": "Neuronal ceroid lipofuscinosis 2|not provided|Neuronal ceroid lipofuscinosis 2;Autosomal recessive spinocerebellar ataxia 7|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}