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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: 1-66822384-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=66822384&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 66822384,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024763.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2473C>G",
"hgvs_p": "p.Pro825Ala",
"transcript": "NM_024763.5",
"protein_id": "NP_079039.4",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 848,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371026.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024763.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2473C>G",
"hgvs_p": "p.Pro825Ala",
"transcript": "ENST00000371026.8",
"protein_id": "ENSP00000360065.3",
"transcript_support_level": 1,
"aa_start": 825,
"aa_end": null,
"aa_length": 848,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024763.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371026.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2386C>G",
"hgvs_p": "p.Pro796Ala",
"transcript": "ENST00000908566.1",
"protein_id": "ENSP00000578625.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 819,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908566.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2341C>G",
"hgvs_p": "p.Pro781Ala",
"transcript": "ENST00000908565.1",
"protein_id": "ENSP00000578624.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 804,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908565.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2317C>G",
"hgvs_p": "p.Pro773Ala",
"transcript": "ENST00000908567.1",
"protein_id": "ENSP00000578626.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 796,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908567.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2287C>G",
"hgvs_p": "p.Pro763Ala",
"transcript": "ENST00000908562.1",
"protein_id": "ENSP00000578621.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 786,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908562.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2278C>G",
"hgvs_p": "p.Pro760Ala",
"transcript": "ENST00000908561.1",
"protein_id": "ENSP00000578620.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 783,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908561.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2230C>G",
"hgvs_p": "p.Pro744Ala",
"transcript": "ENST00000908564.1",
"protein_id": "ENSP00000578623.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 767,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908564.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2179C>G",
"hgvs_p": "p.Pro727Ala",
"transcript": "ENST00000959923.1",
"protein_id": "ENSP00000629982.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 750,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959923.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.1819C>G",
"hgvs_p": "p.Pro607Ala",
"transcript": "ENST00000908563.1",
"protein_id": "ENSP00000578622.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 630,
"cds_start": 1819,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908563.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.1672C>G",
"hgvs_p": "p.Pro558Ala",
"transcript": "ENST00000464352.6",
"protein_id": "ENSP00000433682.1",
"transcript_support_level": 2,
"aa_start": 558,
"aa_end": null,
"aa_length": 581,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464352.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2386C>G",
"hgvs_p": "p.Pro796Ala",
"transcript": "XM_011542161.3",
"protein_id": "XP_011540463.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 819,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542161.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2374C>G",
"hgvs_p": "p.Pro792Ala",
"transcript": "XM_011542162.3",
"protein_id": "XP_011540464.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 815,
"cds_start": 2374,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542162.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2287C>G",
"hgvs_p": "p.Pro763Ala",
"transcript": "XM_047430731.1",
"protein_id": "XP_047286687.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 786,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430731.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2278C>G",
"hgvs_p": "p.Pro760Ala",
"transcript": "XM_005271212.4",
"protein_id": "XP_005271269.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 783,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271212.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2257C>G",
"hgvs_p": "p.Pro753Ala",
"transcript": "XM_047430749.1",
"protein_id": "XP_047286705.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 776,
"cds_start": 2257,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430749.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2191C>G",
"hgvs_p": "p.Pro731Ala",
"transcript": "XM_047430752.1",
"protein_id": "XP_047286708.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 754,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430752.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2179C>G",
"hgvs_p": "p.Pro727Ala",
"transcript": "XM_017002353.2",
"protein_id": "XP_016857842.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 750,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002353.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.2092C>G",
"hgvs_p": "p.Pro698Ala",
"transcript": "XM_017002354.2",
"protein_id": "XP_016857843.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 721,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002354.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.1711C>G",
"hgvs_p": "p.Pro571Ala",
"transcript": "XM_017002355.1",
"protein_id": "XP_016857844.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 594,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002355.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "c.1606C>G",
"hgvs_p": "p.Pro536Ala",
"transcript": "XM_024449821.2",
"protein_id": "XP_024305589.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 559,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449821.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "n.*2415C>G",
"hgvs_p": null,
"transcript": "ENST00000491297.6",
"protein_id": "ENSP00000435836.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000491297.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"hgvs_c": "n.*2415C>G",
"hgvs_p": null,
"transcript": "ENST00000491297.6",
"protein_id": "ENSP00000435836.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000491297.6"
}
],
"gene_symbol": "DNAI4",
"gene_hgnc_id": 26252,
"dbsnp": "rs755437512",
"frequency_reference_population": 0.0000087112785,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000824704,
"gnomad_genomes_af": 0.0000131541,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09637132287025452,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.1725,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.473,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_024763.5",
"gene_symbol": "DNAI4",
"hgnc_id": 26252,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2473C>G",
"hgvs_p": "p.Pro825Ala"
}
],
"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
}