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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: 2-17716775-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=17716775&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 17716775,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024624.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "NM_001142286.2",
"protein_id": "NP_001135758.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000448223.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142286.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "ENST00000448223.7",
"protein_id": "ENSP00000404092.2",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142286.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448223.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "ENST00000351948.8",
"protein_id": "ENSP00000323439.4",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351948.8"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1390A>T",
"hgvs_p": "p.Ile464Leu",
"transcript": "ENST00000446852.5",
"protein_id": "ENSP00000408644.1",
"transcript_support_level": 1,
"aa_start": 464,
"aa_end": null,
"aa_length": 739,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446852.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1390A>T",
"hgvs_p": "p.Ile464Leu",
"transcript": "ENST00000922960.1",
"protein_id": "ENSP00000593019.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1390,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922960.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "NM_024624.6",
"protein_id": "NP_078900.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024624.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "ENST00000402989.5",
"protein_id": "ENSP00000384539.1",
"transcript_support_level": 2,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402989.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "ENST00000922961.1",
"protein_id": "ENSP00000593020.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922961.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "ENST00000922962.1",
"protein_id": "ENSP00000593021.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922962.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "ENST00000922963.1",
"protein_id": "ENSP00000593022.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922963.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "ENST00000960848.1",
"protein_id": "ENSP00000630907.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960848.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "ENST00000960849.1",
"protein_id": "ENSP00000630908.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960849.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "ENST00000960851.1",
"protein_id": "ENSP00000630910.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960851.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1231A>T",
"hgvs_p": "p.Ile411Leu",
"transcript": "ENST00000861877.1",
"protein_id": "ENSP00000531936.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1064,
"cds_start": 1231,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861877.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1231A>T",
"hgvs_p": "p.Ile411Leu",
"transcript": "ENST00000960850.1",
"protein_id": "ENSP00000630909.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1064,
"cds_start": 1231,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960850.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1165A>T",
"hgvs_p": "p.Ile389Leu",
"transcript": "ENST00000861876.1",
"protein_id": "ENSP00000531935.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1165,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861876.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "ENST00000381272.5",
"protein_id": "ENSP00000370672.5",
"transcript_support_level": 5,
"aa_start": 438,
"aa_end": null,
"aa_length": 444,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381272.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "XM_011533107.4",
"protein_id": "XP_011531409.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1110,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533107.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "XM_017004913.3",
"protein_id": "XP_016860402.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1110,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004913.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "XM_017004914.2",
"protein_id": "XP_016860403.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1110,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004914.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "XM_047445833.1",
"protein_id": "XP_047301789.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1110,
"cds_start": 1312,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445833.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Ile438Leu",
"transcript": "XM_017004915.3",
"protein_id": "XP_016860404.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1312,
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}