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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: 12-56645344-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56645344&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56645344,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001686.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "NM_001686.4",
"protein_id": "NP_001677.2",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 529,
"cds_start": 137,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262030.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001686.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000262030.8",
"protein_id": "ENSP00000262030.3",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 529,
"cds_start": 137,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001686.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262030.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000904666.1",
"protein_id": "ENSP00000574725.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 545,
"cds_start": 137,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904666.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.164A>G",
"hgvs_p": "p.Tyr55Cys",
"transcript": "ENST00000904670.1",
"protein_id": "ENSP00000574729.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 538,
"cds_start": 164,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904670.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000904673.1",
"protein_id": "ENSP00000574732.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 538,
"cds_start": 137,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904673.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000904672.1",
"protein_id": "ENSP00000574731.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 533,
"cds_start": 137,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904672.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000918318.1",
"protein_id": "ENSP00000588377.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 527,
"cds_start": 137,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918318.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000918320.1",
"protein_id": "ENSP00000588379.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 525,
"cds_start": 137,
"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": "ENST00000918320.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000944727.1",
"protein_id": "ENSP00000614786.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 523,
"cds_start": 137,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944727.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000904671.1",
"protein_id": "ENSP00000574730.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 492,
"cds_start": 137,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904671.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000904675.1",
"protein_id": "ENSP00000574734.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 489,
"cds_start": 137,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904675.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000904674.1",
"protein_id": "ENSP00000574733.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 485,
"cds_start": 137,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904674.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000904668.1",
"protein_id": "ENSP00000574727.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 476,
"cds_start": 137,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904668.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000904667.1",
"protein_id": "ENSP00000574726.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 458,
"cds_start": 137,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904667.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000918323.1",
"protein_id": "ENSP00000588382.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 435,
"cds_start": 137,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918323.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000918321.1",
"protein_id": "ENSP00000588380.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 364,
"cds_start": 137,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918321.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000918324.1",
"protein_id": "ENSP00000588383.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 310,
"cds_start": 137,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918324.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000553007.2",
"protein_id": "ENSP00000447571.2",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 269,
"cds_start": 137,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553007.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys",
"transcript": "ENST00000918325.1",
"protein_id": "ENSP00000588384.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 136,
"cds_start": 137,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918325.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.128-30A>G",
"hgvs_p": null,
"transcript": "ENST00000918326.1",
"protein_id": "ENSP00000588385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918326.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.128-33A>G",
"hgvs_p": null,
"transcript": "ENST00000904669.1",
"protein_id": "ENSP00000574728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": null,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904669.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5F1B",
"gene_hgnc_id": 830,
"hgvs_c": "c.128-132A>G",
"hgvs_p": null,
"transcript": "ENST00000918328.1",
"protein_id": "ENSP00000588387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
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"cdna_length": null,
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{
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{
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],
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{
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{
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{
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{
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],
"gene_symbol": "ATP5F1B",
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"dbsnp": "rs781300850",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
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"gnomad_exomes_ac": 6,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5386725664138794,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.333,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.149,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.161,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001686.4",
"gene_symbol": "ATP5F1B",
"hgnc_id": 830,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.137A>G",
"hgvs_p": "p.Tyr46Cys"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_002737.1",
"gene_symbol": "SNORD59A",
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"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-243A>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}