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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: 20-58840515-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58840515&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 58840515,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000371075.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"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.409C>T",
"hgvs_p": "p.Pro137Ser",
"transcript": "NM_016592.5",
"protein_id": "NP_057676.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 245,
"cds_start": 409,
"cds_end": null,
"cds_length": 738,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": "ENST00000371075.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.409C>T",
"hgvs_p": "p.Pro137Ser",
"transcript": "ENST00000371075.7",
"protein_id": "ENSP00000360115.3",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 245,
"cds_start": 409,
"cds_end": null,
"cds_length": 738,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": "NM_016592.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.409C>T",
"hgvs_p": "p.Pro137Ser",
"transcript": "ENST00000313949.11",
"protein_id": "ENSP00000323571.7",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 245,
"cds_start": 409,
"cds_end": null,
"cds_length": 738,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.409C>T",
"hgvs_p": "p.Pro137Ser",
"transcript": "ENST00000453292.7",
"protein_id": "ENSP00000392000.2",
"transcript_support_level": 5,
"aa_start": 137,
"aa_end": null,
"aa_length": 245,
"cds_start": 409,
"cds_end": null,
"cds_length": 738,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.819+1422G>A",
"hgvs_p": null,
"transcript": "ENST00000424094.6",
"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": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.409C>T",
"hgvs_p": "p.Pro137Ser",
"transcript": "ENST00000371098.6",
"protein_id": "ENSP00000360139.2",
"transcript_support_level": 5,
"aa_start": 137,
"aa_end": null,
"aa_length": 245,
"cds_start": 409,
"cds_end": null,
"cds_length": 738,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.409C>T",
"hgvs_p": "p.Pro137Ser",
"transcript": "ENST00000419558.7",
"protein_id": "ENSP00000416234.2",
"transcript_support_level": 3,
"aa_start": 137,
"aa_end": null,
"aa_length": 245,
"cds_start": 409,
"cds_end": null,
"cds_length": 738,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2503,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.330G>A",
"hgvs_p": null,
"transcript": "ENST00000443966.2",
"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": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_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.-329C>T",
"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,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_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.-329C>T",
"hgvs_p": null,
"transcript": "XM_047440113.1",
"protein_id": "XP_047296069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": -4,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_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.-329C>T",
"hgvs_p": null,
"transcript": "XM_017027815.2",
"protein_id": "XP_016883304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2503,
"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.-39+575C>T",
"hgvs_p": null,
"transcript": "ENST00000657090.1",
"protein_id": "ENSP00000499380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.388+8364G>A",
"hgvs_p": null,
"transcript": "ENST00000598163.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.646+1422G>A",
"hgvs_p": null,
"transcript": "ENST00000685926.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 984,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.741+1422G>A",
"hgvs_p": null,
"transcript": "ENST00000691748.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.228+10148G>A",
"hgvs_p": null,
"transcript": "ENST00000701893.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 671,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.615+1422G>A",
"hgvs_p": null,
"transcript": "ENST00000716940.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.508+1422G>A",
"hgvs_p": null,
"transcript": "ENST00000716945.1",
"protein_id": null,
"transcript_support_level": null,
"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": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.709+1422G>A",
"hgvs_p": null,
"transcript": "ENST00000716946.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.423+1422G>A",
"hgvs_p": null,
"transcript": "ENST00000716947.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.349+8237G>A",
"hgvs_p": null,
"transcript": "ENST00000716948.1",
"protein_id": null,
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.958+1422G>A",
"hgvs_p": null,
"transcript": "ENST00000716949.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNAS-AS1",
"gene_hgnc_id": 24872,
"hgvs_c": "n.364+12279G>A",
"hgvs_p": null,
"transcript": "ENST00000716950.1",
"protein_id": null,
"transcript_support_level": null,
"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": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
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{
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"verdict": "Uncertain_significance",
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{
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],
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"phenotype_combined": "Inborn genetic diseases",
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}
],
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}