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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: 7-726731-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=726731&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 726731,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017802.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Leu4Pro",
"transcript": "NM_017802.4",
"protein_id": "NP_060272.3",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 855,
"cds_start": 11,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 33,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "ENST00000297440.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017802.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Leu4Pro",
"transcript": "ENST00000297440.11",
"protein_id": "ENSP00000297440.6",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 855,
"cds_start": 11,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 33,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "NM_017802.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297440.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.-23+479A>G",
"hgvs_p": null,
"transcript": "NM_001164760.2",
"protein_id": "NP_001158232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": "ENST00000537384.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164760.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.-23+479A>G",
"hgvs_p": null,
"transcript": "ENST00000537384.6",
"protein_id": "ENSP00000440449.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": "NM_001164760.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537384.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.-23+859A>G",
"hgvs_p": null,
"transcript": "ENST00000403562.5",
"protein_id": "ENSP00000385349.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403562.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Leu4Pro",
"transcript": "ENST00000852634.1",
"protein_id": "ENSP00000522693.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 882,
"cds_start": 11,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 30,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852634.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Leu4Pro",
"transcript": "ENST00000852633.1",
"protein_id": "ENSP00000522692.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 862,
"cds_start": 11,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 30,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852633.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Leu4Pro",
"transcript": "ENST00000852635.1",
"protein_id": "ENSP00000522694.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 853,
"cds_start": 11,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 33,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852635.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Leu4Pro",
"transcript": "ENST00000913166.1",
"protein_id": "ENSP00000583225.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 830,
"cds_start": 11,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913166.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Leu4Pro",
"transcript": "ENST00000852632.1",
"protein_id": "ENSP00000522691.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 791,
"cds_start": 11,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852632.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Leu4Pro",
"transcript": "ENST00000852631.1",
"protein_id": "ENSP00000522690.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 712,
"cds_start": 11,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852631.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Leu4Pro",
"transcript": "ENST00000913167.1",
"protein_id": "ENSP00000583226.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 648,
"cds_start": 11,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 29,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913167.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Leu4Pro",
"transcript": "ENST00000972191.1",
"protein_id": "ENSP00000642250.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 602,
"cds_start": 11,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972191.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF5",
"gene_hgnc_id": 26013,
"hgvs_c": "c.11T>C",
"hgvs_p": "p.Leu4Pro",
"transcript": "XM_024446813.2",
"protein_id": "XP_024302581.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 791,
"cds_start": 11,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 33,
"cdna_end": null,
"cdna_length": 3220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446813.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.-23+859A>G",
"hgvs_p": null,
"transcript": "NM_001164758.2",
"protein_id": "NP_001158230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164758.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.-23+924A>G",
"hgvs_p": null,
"transcript": "NM_001164759.1",
"protein_id": "NP_001158231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.-23+1139A>G",
"hgvs_p": null,
"transcript": "ENST00000852399.1",
"protein_id": "ENSP00000522458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852399.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.-19+859A>G",
"hgvs_p": null,
"transcript": "ENST00000852400.1",
"protein_id": "ENSP00000522459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852400.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.-23+924A>G",
"hgvs_p": null,
"transcript": "ENST00000852401.1",
"protein_id": "ENSP00000522460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852401.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.-105+859A>G",
"hgvs_p": null,
"transcript": "ENST00000852402.1",
"protein_id": "ENSP00000522461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852402.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.-23+805A>G",
"hgvs_p": null,
"transcript": "ENST00000852403.1",
"protein_id": "ENSP00000522462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852403.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.-55+479A>G",
"hgvs_p": null,
"transcript": "ENST00000852404.1",
"protein_id": "ENSP00000522463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852404.1"
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"clinvar_review_status": "criteria provided, conflicting classifications",
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}
],
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}