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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: 2-162352383-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=162352383&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 162352383,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330268.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.238T>C",
"hgvs_p": "p.Ser80Pro",
"transcript": "NM_012198.5",
"protein_id": "NP_036330.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 217,
"cds_start": 238,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000437150.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012198.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.238T>C",
"hgvs_p": "p.Ser80Pro",
"transcript": "ENST00000437150.7",
"protein_id": "ENSP00000394842.2",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 217,
"cds_start": 238,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012198.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437150.7"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.316T>C",
"hgvs_p": "p.Ser106Pro",
"transcript": "NM_001330268.1",
"protein_id": "NP_001317197.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 243,
"cds_start": 316,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330268.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.283T>C",
"hgvs_p": "p.Ser95Pro",
"transcript": "NM_001330265.1",
"protein_id": "NP_001317194.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 232,
"cds_start": 283,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330265.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.283T>C",
"hgvs_p": "p.Ser95Pro",
"transcript": "NM_001330266.1",
"protein_id": "NP_001317195.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 232,
"cds_start": 283,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330266.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.283T>C",
"hgvs_p": "p.Ser95Pro",
"transcript": "NM_001330267.1",
"protein_id": "NP_001317196.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 232,
"cds_start": 283,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330267.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.259T>C",
"hgvs_p": "p.Ser87Pro",
"transcript": "ENST00000935560.1",
"protein_id": "ENSP00000605619.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 224,
"cds_start": 259,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935560.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.238T>C",
"hgvs_p": "p.Ser80Pro",
"transcript": "ENST00000935559.1",
"protein_id": "ENSP00000605618.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 223,
"cds_start": 238,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935559.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.238T>C",
"hgvs_p": "p.Ser80Pro",
"transcript": "ENST00000884872.1",
"protein_id": "ENSP00000554931.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 217,
"cds_start": 238,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884872.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.238T>C",
"hgvs_p": "p.Ser80Pro",
"transcript": "ENST00000884874.1",
"protein_id": "ENSP00000554933.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 214,
"cds_start": 238,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884874.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.181T>C",
"hgvs_p": "p.Ser61Pro",
"transcript": "NM_001330270.2",
"protein_id": "NP_001317199.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 198,
"cds_start": 181,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330270.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.181T>C",
"hgvs_p": "p.Ser61Pro",
"transcript": "NM_001330271.2",
"protein_id": "NP_001317200.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 198,
"cds_start": 181,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330271.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.181T>C",
"hgvs_p": "p.Ser61Pro",
"transcript": "ENST00000233612.8",
"protein_id": "ENSP00000233612.4",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 198,
"cds_start": 181,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233612.8"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.238T>C",
"hgvs_p": "p.Ser80Pro",
"transcript": "ENST00000884873.1",
"protein_id": "ENSP00000554932.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 179,
"cds_start": 238,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884873.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.316T>C",
"hgvs_p": "p.Ser106Pro",
"transcript": "ENST00000446271.5",
"protein_id": "ENSP00000393218.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 145,
"cds_start": 316,
"cds_end": null,
"cds_length": 440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446271.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.238T>C",
"hgvs_p": "p.Ser80Pro",
"transcript": "ENST00000958260.1",
"protein_id": "ENSP00000628319.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 141,
"cds_start": 238,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958260.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.181T>C",
"hgvs_p": "p.Ser61Pro",
"transcript": "ENST00000453113.6",
"protein_id": "ENSP00000403805.2",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 131,
"cds_start": 181,
"cds_end": null,
"cds_length": 397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453113.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.181T>C",
"hgvs_p": "p.Ser61Pro",
"transcript": "ENST00000429691.6",
"protein_id": "ENSP00000412899.2",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 87,
"cds_start": 181,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429691.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.316T>C",
"hgvs_p": "p.Ser106Pro",
"transcript": "XM_006712398.5",
"protein_id": "XP_006712461.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 259,
"cds_start": 316,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712398.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.283T>C",
"hgvs_p": "p.Ser95Pro",
"transcript": "XM_006712400.5",
"protein_id": "XP_006712463.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 248,
"cds_start": 283,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712400.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.283T>C",
"hgvs_p": "p.Ser95Pro",
"transcript": "XM_047443881.1",
"protein_id": "XP_047299837.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 248,
"cds_start": 283,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443881.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCA",
"gene_hgnc_id": 15990,
"hgvs_c": "c.283T>C",
"hgvs_p": "p.Ser95Pro",
"transcript": "XM_047443882.1",
"protein_id": "XP_047299838.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 248,
"cds_start": 283,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443882.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}