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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: 17-20204930-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=20204930&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 20204930,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000395527.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "NM_001243439.2",
"protein_id": "NP_001230368.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1068,
"cds_start": 881,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 8255,
"mane_select": "ENST00000395527.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000395527.9",
"protein_id": "ENSP00000378898.4",
"transcript_support_level": 2,
"aa_start": 294,
"aa_end": null,
"aa_length": 1068,
"cds_start": 881,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 8255,
"mane_select": "NM_001243439.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000261503.9",
"protein_id": "ENSP00000261503.5",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 1068,
"cds_start": 881,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.638C>G",
"hgvs_p": "p.Ser213Cys",
"transcript": "ENST00000395530.6",
"protein_id": "ENSP00000378901.2",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 987,
"cds_start": 638,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 8133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000395529.7",
"protein_id": "ENSP00000378900.3",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 790,
"cds_start": 881,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.638C>G",
"hgvs_p": "p.Ser213Cys",
"transcript": "ENST00000395525.7",
"protein_id": "ENSP00000378896.3",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 709,
"cds_start": 638,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.638C>G",
"hgvs_p": "p.Ser213Cys",
"transcript": "ENST00000395522.6",
"protein_id": "ENSP00000378893.2",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 703,
"cds_start": 638,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "NM_001033553.3",
"protein_id": "NP_001028725.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1068,
"cds_start": 881,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 8219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "NM_001386083.2",
"protein_id": "NP_001373012.2",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1068,
"cds_start": 881,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 8512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000677914.1",
"protein_id": "ENSP00000503971.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1068,
"cds_start": 881,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000679058.1",
"protein_id": "ENSP00000502924.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1068,
"cds_start": 881,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000679255.1",
"protein_id": "ENSP00000504211.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1068,
"cds_start": 881,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000678321.1",
"protein_id": "ENSP00000503822.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1050,
"cds_start": 881,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000681564.1",
"protein_id": "ENSP00000506710.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1050,
"cds_start": 881,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "NM_001386082.1",
"protein_id": "NP_001373011.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1048,
"cds_start": 881,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000678019.1",
"protein_id": "ENSP00000503509.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1048,
"cds_start": 881,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "NM_001386081.1",
"protein_id": "NP_001373010.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1034,
"cds_start": 881,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000680019.1",
"protein_id": "ENSP00000506699.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1034,
"cds_start": 881,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "NM_001386085.1",
"protein_id": "NP_001373014.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1029,
"cds_start": 881,
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"cdna_start": 968,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000679048.1",
"protein_id": "ENSP00000503774.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1029,
"cds_start": 881,
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"cdna_start": 1462,
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"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000681875.1",
"protein_id": "ENSP00000505421.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1029,
"cds_start": 881,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
"gene_hgnc_id": 30615,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Ser294Cys",
"transcript": "ENST00000677148.1",
"protein_id": "ENSP00000503849.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 1009,
"cds_start": 881,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1",
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{
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"phenotype_combined": "not specified",
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}
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}