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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: 1-70228489-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=70228489&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 70228489,
"ref": "G",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001350610.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "NM_001350605.2",
"protein_id": "NP_001337534.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 484,
"cds_start": 271,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370949.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350605.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "ENST00000370949.2",
"protein_id": "ENSP00000359987.2",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 484,
"cds_start": 271,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001350605.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370949.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "ENST00000395136.7",
"protein_id": "ENSP00000378568.3",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 491,
"cds_start": 271,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395136.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "ENST00000370950.7",
"protein_id": "ENSP00000359988.3",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 484,
"cds_start": 271,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370950.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "ENST00000370951.5",
"protein_id": "ENSP00000359989.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 483,
"cds_start": 271,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370951.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.-417G>C",
"hgvs_p": null,
"transcript": "NM_001350610.2",
"protein_id": "NP_001337539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": null,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350610.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.-417G>C",
"hgvs_p": null,
"transcript": "NM_001350611.2",
"protein_id": "NP_001337540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350611.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.-526G>C",
"hgvs_p": null,
"transcript": "NM_001350612.2",
"protein_id": "NP_001337541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": null,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350612.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.-417G>C",
"hgvs_p": null,
"transcript": "NM_001350613.2",
"protein_id": "NP_001337542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": null,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350613.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.-526G>C",
"hgvs_p": null,
"transcript": "NM_001350614.2",
"protein_id": "NP_001337543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350614.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.-300G>C",
"hgvs_p": null,
"transcript": "NM_001350615.2",
"protein_id": "NP_001337544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350615.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.-417G>C",
"hgvs_p": null,
"transcript": "NM_001350616.2",
"protein_id": "NP_001337545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350616.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Val102Leu",
"transcript": "NM_001394402.1",
"protein_id": "NP_001381331.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 494,
"cds_start": 304,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394402.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Val102Leu",
"transcript": "NM_001394403.1",
"protein_id": "NP_001381332.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 494,
"cds_start": 304,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394403.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "NM_001350608.2",
"protein_id": "NP_001337537.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 491,
"cds_start": 271,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350608.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "NM_001394404.1",
"protein_id": "NP_001381333.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 491,
"cds_start": 271,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394404.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "ENST00000855490.1",
"protein_id": "ENSP00000525549.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 491,
"cds_start": 271,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855490.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "ENST00000915575.1",
"protein_id": "ENSP00000585634.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 491,
"cds_start": 271,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915575.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "ENST00000915576.1",
"protein_id": "ENSP00000585635.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 491,
"cds_start": 271,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915576.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "NM_001350609.2",
"protein_id": "NP_001337538.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 490,
"cds_start": 271,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350609.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "NM_001394405.1",
"protein_id": "NP_001381334.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 490,
"cds_start": 271,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394405.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF11",
"gene_hgnc_id": 10782,
"hgvs_c": "c.271G>C",
"hgvs_p": "p.Val91Leu",
"transcript": "ENST00000855489.1",
"protein_id": "ENSP00000525548.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 490,
"cds_start": 271,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
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}
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}