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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: 20-58853765-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58853765&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 58853765,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000676826.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asp167Gly",
"transcript": "ENST00000676826.2",
"protein_id": "ENSP00000504675.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1038,
"cds_start": 500,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asp167Gly",
"transcript": "ENST00000371102.8",
"protein_id": "ENSP00000360143.4",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 1023,
"cds_start": 500,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "n.500A>G",
"hgvs_p": null,
"transcript": "ENST00000481768.6",
"protein_id": "ENSP00000499644.2",
"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": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*42+12879A>G",
"hgvs_p": null,
"transcript": "NM_016592.5",
"protein_id": "NP_057676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": "ENST00000371075.7",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*42+12879A>G",
"hgvs_p": null,
"transcript": "ENST00000371075.7",
"protein_id": "ENSP00000360115.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": "NM_016592.5",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.-39+11890A>G",
"hgvs_p": null,
"transcript": "ENST00000663479.2",
"protein_id": "ENSP00000499353.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.-39+11890A>G",
"hgvs_p": null,
"transcript": "ENST00000462499.6",
"protein_id": "ENSP00000499758.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.-39+9691A>G",
"hgvs_p": null,
"transcript": "ENST00000467227.6",
"protein_id": "ENSP00000499681.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*42+12879A>G",
"hgvs_p": null,
"transcript": "ENST00000313949.11",
"protein_id": "ENSP00000323571.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*42+12879A>G",
"hgvs_p": null,
"transcript": "ENST00000453292.7",
"protein_id": "ENSP00000392000.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asp167Gly",
"transcript": "NM_080425.4",
"protein_id": "NP_536350.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1037,
"cds_start": 500,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asp167Gly",
"transcript": "ENST00000371100.9",
"protein_id": "ENSP00000360141.3",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 1037,
"cds_start": 500,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asp167Gly",
"transcript": "NM_001410913.1",
"protein_id": "NP_001397842.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1022,
"cds_start": 500,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 3982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asp167Gly",
"transcript": "ENST00000349036.9",
"protein_id": "ENSP00000265621.6",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 1022,
"cds_start": 500,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asp167Gly",
"transcript": "ENST00000423897.7",
"protein_id": "ENSP00000412356.2",
"transcript_support_level": 3,
"aa_start": 167,
"aa_end": null,
"aa_length": 730,
"cds_start": 500,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Thr169Ala",
"transcript": "ENST00000306120.4",
"protein_id": "ENSP00000302237.4",
"transcript_support_level": 6,
"aa_start": 169,
"aa_end": null,
"aa_length": 690,
"cds_start": 505,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "NM_001077490.3",
"protein_id": "NP_001070958.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 626,
"cds_start": 313,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "NM_001309883.1",
"protein_id": "NP_001296812.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 626,
"cds_start": 313,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asp167Gly",
"transcript": "XM_017027812.3",
"protein_id": "XP_016883301.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1038,
"cds_start": 500,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Asp167Gly",
"transcript": "XM_017027813.3",
"protein_id": "XP_016883302.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1023,
"cds_start": 500,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 3985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "n.503A>G",
"hgvs_p": null,
"transcript": "ENST00000371099.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "n.500A>G",
"hgvs_p": null,
"transcript": "ENST00000464624.7",
"protein_id": "ENSP00000499607.2",
"transcript_support_level": 5,
"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": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.43+12879A>G",
"hgvs_p": null,
"transcript": "NM_001410912.1",
"protein_id": "NP_001397841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
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{
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],
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1 O:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}