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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: 20-20495161-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=20495161&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 20495161,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020343.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5323A>G",
"hgvs_p": "p.Met1775Val",
"transcript": "NM_020343.4",
"protein_id": "NP_065076.2",
"transcript_support_level": null,
"aa_start": 1775,
"aa_end": null,
"aa_length": 1873,
"cds_start": 5323,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 5487,
"cdna_end": null,
"cdna_length": 9545,
"mane_select": "ENST00000202677.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020343.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5323A>G",
"hgvs_p": "p.Met1775Val",
"transcript": "ENST00000202677.12",
"protein_id": "ENSP00000202677.6",
"transcript_support_level": 5,
"aa_start": 1775,
"aa_end": null,
"aa_length": 1873,
"cds_start": 5323,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 5487,
"cdna_end": null,
"cdna_length": 9545,
"mane_select": "NM_020343.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000202677.12"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5284A>G",
"hgvs_p": "p.Met1762Val",
"transcript": "ENST00000909985.1",
"protein_id": "ENSP00000580044.1",
"transcript_support_level": null,
"aa_start": 1762,
"aa_end": null,
"aa_length": 1860,
"cds_start": 5284,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 5436,
"cdna_end": null,
"cdna_length": 6850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909985.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5185A>G",
"hgvs_p": "p.Met1729Val",
"transcript": "ENST00000934890.1",
"protein_id": "ENSP00000604949.1",
"transcript_support_level": null,
"aa_start": 1729,
"aa_end": null,
"aa_length": 1827,
"cds_start": 5185,
"cds_end": null,
"cds_length": 5484,
"cdna_start": 5336,
"cdna_end": null,
"cdna_length": 9372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934890.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.4771A>G",
"hgvs_p": "p.Met1591Val",
"transcript": "ENST00000430436.5",
"protein_id": "ENSP00000400085.1",
"transcript_support_level": 5,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4771,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 4773,
"cdna_end": null,
"cdna_length": 8769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430436.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Met185Val",
"transcript": "ENST00000427175.2",
"protein_id": "ENSP00000388695.1",
"transcript_support_level": 2,
"aa_start": 185,
"aa_end": null,
"aa_length": 249,
"cds_start": 553,
"cds_end": null,
"cds_length": 750,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427175.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5464A>G",
"hgvs_p": "p.Met1822Val",
"transcript": "XM_006723598.2",
"protein_id": "XP_006723661.1",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 1970,
"cds_start": 5464,
"cds_end": null,
"cds_length": 5913,
"cdna_start": 5628,
"cdna_end": null,
"cdna_length": 9646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723598.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5323A>G",
"hgvs_p": "p.Met1775Val",
"transcript": "XM_005260768.3",
"protein_id": "XP_005260825.1",
"transcript_support_level": null,
"aa_start": 1775,
"aa_end": null,
"aa_length": 1923,
"cds_start": 5323,
"cds_end": null,
"cds_length": 5772,
"cdna_start": 5487,
"cdna_end": null,
"cdna_length": 9505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260768.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5464A>G",
"hgvs_p": "p.Met1822Val",
"transcript": "XM_006723599.2",
"protein_id": "XP_006723662.1",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 1920,
"cds_start": 5464,
"cds_end": null,
"cds_length": 5763,
"cdna_start": 5628,
"cdna_end": null,
"cdna_length": 9686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723599.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5464A>G",
"hgvs_p": "p.Met1822Val",
"transcript": "XM_011529309.2",
"protein_id": "XP_011527611.1",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 1886,
"cds_start": 5464,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 5628,
"cdna_end": null,
"cdna_length": 6434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529309.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5464A>G",
"hgvs_p": "p.Met1822Val",
"transcript": "XM_047440319.1",
"protein_id": "XP_047296275.1",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 1886,
"cds_start": 5464,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 5628,
"cdna_end": null,
"cdna_length": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440319.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5464A>G",
"hgvs_p": "p.Met1822Val",
"transcript": "XM_047440320.1",
"protein_id": "XP_047296276.1",
"transcript_support_level": null,
"aa_start": 1822,
"aa_end": null,
"aa_length": 1886,
"cds_start": 5464,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 5628,
"cdna_end": null,
"cdna_length": 23296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440320.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5323A>G",
"hgvs_p": "p.Met1775Val",
"transcript": "XM_047440321.1",
"protein_id": "XP_047296277.1",
"transcript_support_level": null,
"aa_start": 1775,
"aa_end": null,
"aa_length": 1839,
"cds_start": 5323,
"cds_end": null,
"cds_length": 5520,
"cdna_start": 5487,
"cdna_end": null,
"cdna_length": 6293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440321.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.4978A>G",
"hgvs_p": "p.Met1660Val",
"transcript": "XM_011529310.3",
"protein_id": "XP_011527612.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4978,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 5464,
"cdna_end": null,
"cdna_length": 9482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529310.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.3667A>G",
"hgvs_p": "p.Met1223Val",
"transcript": "XM_047440322.1",
"protein_id": "XP_047296278.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3667,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3743,
"cdna_end": null,
"cdna_length": 7761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440322.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.3586A>G",
"hgvs_p": "p.Met1196Val",
"transcript": "XM_011529311.3",
"protein_id": "XP_011527613.2",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3586,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 6076,
"cdna_end": null,
"cdna_length": 10094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529311.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.3526A>G",
"hgvs_p": "p.Met1176Val",
"transcript": "XM_047440323.1",
"protein_id": "XP_047296279.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3526,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 3674,
"cdna_end": null,
"cdna_length": 7692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440323.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.3445A>G",
"hgvs_p": "p.Met1149Val",
"transcript": "XM_047440324.1",
"protein_id": "XP_047296280.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3445,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 5934,
"cdna_end": null,
"cdna_length": 9952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440324.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "n.5628A>G",
"hgvs_p": null,
"transcript": "XR_001754352.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11324,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001754352.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "n.5628A>G",
"hgvs_p": null,
"transcript": "XR_007067470.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10068,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "n.5487A>G",
"hgvs_p": null,
"transcript": "XR_007067471.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11183,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "n.5628A>G",
"hgvs_p": null,
"transcript": "XR_007067472.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6041,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "n.5628A>G",
"hgvs_p": null,
"transcript": "XR_937111.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9970,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_937111.3"
}
],
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"dbsnp": "rs1338591415",
"frequency_reference_population": 0.0000111764175,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000109716,
"gnomad_genomes_af": 0.0000131391,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24416473507881165,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.327,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.074,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.079,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020343.4",
"gene_symbol": "RALGAPA2",
"hgnc_id": 16207,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5323A>G",
"hgvs_p": "p.Met1775Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}