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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: 22-37616926-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37616926&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37616926,
"ref": "C",
"alt": "G",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001172688.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.133C>G",
"hgvs_p": "p.Pro45Ala",
"transcript": "NM_013365.5",
"protein_id": "NP_037497.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 639,
"cds_start": 133,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343632.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013365.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.133C>G",
"hgvs_p": "p.Pro45Ala",
"transcript": "ENST00000343632.9",
"protein_id": "ENSP00000341344.4",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 639,
"cds_start": 133,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013365.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343632.9"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.133C>G",
"hgvs_p": "p.Pro45Ala",
"transcript": "ENST00000381756.9",
"protein_id": "ENSP00000371175.5",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 656,
"cds_start": 133,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381756.9"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.133C>G",
"hgvs_p": "p.Pro45Ala",
"transcript": "ENST00000325180.12",
"protein_id": "ENSP00000321288.8",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 552,
"cds_start": 133,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325180.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "NM_001172688.2",
"protein_id": "NP_001166159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172688.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "ENST00000406772.5",
"protein_id": "ENSP00000385287.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406772.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "ENST00000413251.5",
"protein_id": "ENSP00000411373.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413251.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "ENST00000423024.1",
"protein_id": "ENSP00000414413.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "ENST00000429218.5",
"protein_id": "ENSP00000403534.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429218.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "ENST00000453208.5",
"protein_id": "ENSP00000416153.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": null,
"cds_end": null,
"cds_length": 212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453208.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "ENST00000439161.5",
"protein_id": "ENSP00000404453.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": null,
"cds_end": null,
"cds_length": 179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439161.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "ENST00000411501.5",
"protein_id": "ENSP00000400159.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 39,
"cds_start": null,
"cds_end": null,
"cds_length": 122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411501.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "ENST00000326597.6",
"protein_id": "ENSP00000402930.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": null,
"cds_end": null,
"cds_length": 114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326597.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "ENST00000447515.5",
"protein_id": "ENSP00000411727.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 27,
"cds_start": null,
"cds_end": null,
"cds_length": 84,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447515.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "ENST00000431745.5",
"protein_id": "ENSP00000395901.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 16,
"cds_start": null,
"cds_end": null,
"cds_length": 53,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431745.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "XM_006724229.2",
"protein_id": "XP_006724292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724229.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "XM_024452215.2",
"protein_id": "XP_024307983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452215.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-87C>G",
"hgvs_p": null,
"transcript": "XM_024452216.2",
"protein_id": "XP_024307984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452216.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-138C>G",
"hgvs_p": null,
"transcript": "XM_047441324.1",
"protein_id": "XP_047297280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441324.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-138C>G",
"hgvs_p": null,
"transcript": "XM_047441325.1",
"protein_id": "XP_047297281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441325.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.-138C>G",
"hgvs_p": null,
"transcript": "XM_047441326.1",
"protein_id": "XP_047297282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441326.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGA1",
"gene_hgnc_id": 17842,
"hgvs_c": "c.133C>G",
"hgvs_p": "p.Pro45Ala",
"transcript": "ENST00000851285.1",
"protein_id": "ENSP00000521344.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 679,
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"phenotype_combined": "not specified",
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}
],
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}