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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: 1-154170438-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154170438&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154170438,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000651641.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu",
"transcript": "NM_152263.4",
"protein_id": "NP_689476.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 285,
"cds_start": 737,
"cds_end": null,
"cds_length": 858,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 7064,
"mane_select": "ENST00000651641.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu",
"transcript": "ENST00000651641.1",
"protein_id": "ENSP00000498577.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 285,
"cds_start": 737,
"cds_end": null,
"cds_length": 858,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 7064,
"mane_select": "NM_152263.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu",
"transcript": "ENST00000368530.7",
"protein_id": "ENSP00000357516.3",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 285,
"cds_start": 737,
"cds_end": null,
"cds_length": 858,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "ENST00000330188.13",
"protein_id": "ENSP00000339035.7",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "ENST00000368533.8",
"protein_id": "ENSP00000357521.3",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "ENST00000368531.6",
"protein_id": "ENSP00000357517.2",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 247,
"cds_start": 626,
"cds_end": null,
"cds_length": 744,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.626C>T",
"hgvs_p": null,
"transcript": "ENST00000341485.10",
"protein_id": "ENSP00000341653.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.744C>T",
"hgvs_p": null,
"transcript": "ENST00000368545.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu",
"transcript": "NM_001364679.2",
"protein_id": "NP_001351608.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 285,
"cds_start": 737,
"cds_end": null,
"cds_length": 858,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu",
"transcript": "NM_001364680.2",
"protein_id": "NP_001351609.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 285,
"cds_start": 737,
"cds_end": null,
"cds_length": 858,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu",
"transcript": "NM_001364682.1",
"protein_id": "NP_001351611.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 285,
"cds_start": 737,
"cds_end": null,
"cds_length": 858,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 7064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu",
"transcript": "ENST00000271850.11",
"protein_id": "ENSP00000271850.7",
"transcript_support_level": 5,
"aa_start": 246,
"aa_end": null,
"aa_length": 285,
"cds_start": 737,
"cds_end": null,
"cds_length": 858,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu",
"transcript": "NM_001364681.2",
"protein_id": "NP_001351610.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 284,
"cds_start": 737,
"cds_end": null,
"cds_length": 855,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "NM_001043351.2",
"protein_id": "NP_001036816.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "NM_001278189.2",
"protein_id": "NP_001265118.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "NM_001349679.2",
"protein_id": "NP_001336608.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "NM_001364683.1",
"protein_id": "NP_001351612.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 6970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "NM_153649.4",
"protein_id": "NP_705935.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "ENST00000328159.9",
"protein_id": "ENSP00000357520.1",
"transcript_support_level": 2,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "NM_001043352.2",
"protein_id": "NP_001036817.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 247,
"cds_start": 626,
"cds_end": null,
"cds_length": 744,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "NM_001043353.2",
"protein_id": "NP_001036818.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 247,
"cds_start": 626,
"cds_end": null,
"cds_length": 744,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "ENST00000323144.12",
"protein_id": "ENSP00000357518.4",
"transcript_support_level": 2,
"aa_start": 209,
"aa_end": null,
"aa_length": 247,
"cds_start": 626,
"cds_end": null,
"cds_length": 744,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Ser188Leu",
"transcript": "NM_001278190.2",
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"dbsnp": "rs1553248522",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.757,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.117,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
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{
"score": 5,
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"pathogenic_score": 5,
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"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "TPM3",
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],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu"
}
],
"clinvar_disease": " autosomal recessive,Congenital myopathy 4B,Congenital myopathy with fiber type disproportion,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Congenital myopathy with fiber type disproportion;Congenital myopathy 4B, autosomal recessive|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}