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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: 1-111120671-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111120671&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 111120671,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000484310.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"transcript": "NM_001349884.2",
"protein_id": "NP_001336813.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "ENST00000484310.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"transcript": "ENST00000484310.6",
"protein_id": "ENSP00000503400.1",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "NM_001349884.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"transcript": "ENST00000286692.8",
"protein_id": "ENSP00000286692.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"transcript": "ENST00000539140.6",
"protein_id": "ENSP00000437718.1",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.-29A>T",
"hgvs_p": null,
"transcript": "NM_001349889.2",
"protein_id": "NP_001336818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.-29A>T",
"hgvs_p": null,
"transcript": "NM_001349890.2",
"protein_id": "NP_001336819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.-29A>T",
"hgvs_p": null,
"transcript": "NM_001349891.2",
"protein_id": "NP_001336820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.-29A>T",
"hgvs_p": null,
"transcript": "NM_001349892.2",
"protein_id": "NP_001336821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.-29A>T",
"hgvs_p": null,
"transcript": "NM_001349893.2",
"protein_id": "NP_001336822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"transcript": "NM_001349881.2",
"protein_id": "NP_001336810.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"transcript": "NM_001349882.2",
"protein_id": "NP_001336811.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"transcript": "NM_001349885.2",
"protein_id": "NP_001336814.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"transcript": "NM_178454.6",
"protein_id": "NP_848549.3",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.92A>T",
"hgvs_p": "p.His31Leu",
"transcript": "NM_001349886.2",
"protein_id": "NP_001336815.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 176,
"cds_start": 92,
"cds_end": null,
"cds_length": 531,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.92A>T",
"hgvs_p": "p.His31Leu",
"transcript": "NM_001349887.2",
"protein_id": "NP_001336816.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 176,
"cds_start": 92,
"cds_end": null,
"cds_length": 531,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.92A>T",
"hgvs_p": "p.His31Leu",
"transcript": "NM_001349888.2",
"protein_id": "NP_001336817.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 176,
"cds_start": 92,
"cds_end": null,
"cds_length": 531,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"transcript": "XM_011540708.2",
"protein_id": "XP_011539010.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"transcript": "XM_047446242.1",
"protein_id": "XP_047302198.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 2469,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "n.136A>T",
"hgvs_p": null,
"transcript": "ENST00000461449.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 611,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "n.378A>T",
"hgvs_p": null,
"transcript": "ENST00000480600.6",
"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,
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"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "n.*49A>T",
"hgvs_p": null,
"transcript": "ENST00000496430.6",
"protein_id": "ENSP00000473779.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 767,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "n.496A>T",
"hgvs_p": null,
"transcript": "NR_146301.2",
"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": 1916,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRAM2",
"gene_hgnc_id": 28769,
"hgvs_c": "n.356A>T",
"hgvs_p": null,
"transcript": "NR_146302.2",
"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,
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"phenotype_combined": "Retinal dystrophy|Cone-rod dystrophy 21",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
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}