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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: 5-55262899-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=55262899&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 55262899,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_019030.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"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": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3559G>T",
"hgvs_p": "p.Ala1187Ser",
"transcript": "NM_019030.4",
"protein_id": "NP_061903.2",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3559,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251636.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019030.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"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": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3559G>T",
"hgvs_p": "p.Ala1187Ser",
"transcript": "ENST00000251636.10",
"protein_id": "ENSP00000251636.5",
"transcript_support_level": 1,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3559,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019030.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251636.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "n.3767G>T",
"hgvs_p": null,
"transcript": "ENST00000504778.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000504778.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3577G>T",
"hgvs_p": "p.Ala1193Ser",
"transcript": "ENST00000867273.1",
"protein_id": "ENSP00000537332.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1375,
"cds_start": 3577,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867273.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3511G>T",
"hgvs_p": "p.Ala1171Ser",
"transcript": "ENST00000912931.1",
"protein_id": "ENSP00000582990.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3511,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912931.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3490G>T",
"hgvs_p": "p.Ala1164Ser",
"transcript": "ENST00000962095.1",
"protein_id": "ENSP00000632154.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3490,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962095.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3445G>T",
"hgvs_p": "p.Ala1149Ser",
"transcript": "ENST00000867272.1",
"protein_id": "ENSP00000537331.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3445,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867272.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3406G>T",
"hgvs_p": "p.Ala1136Ser",
"transcript": "NM_001345964.2",
"protein_id": "NP_001332893.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345964.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3406G>T",
"hgvs_p": "p.Ala1136Ser",
"transcript": "ENST00000867274.1",
"protein_id": "ENSP00000537333.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3406,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867274.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3400G>T",
"hgvs_p": "p.Ala1134Ser",
"transcript": "ENST00000962096.1",
"protein_id": "ENSP00000632155.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962096.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.1651G>T",
"hgvs_p": "p.Ala551Ser",
"transcript": "NM_001345965.2",
"protein_id": "NP_001332894.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 733,
"cds_start": 1651,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345965.2"
},
{
"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": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3526-1400G>T",
"hgvs_p": null,
"transcript": "ENST00000867275.1",
"protein_id": "ENSP00000537334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": null,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867275.1"
},
{
"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": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3526-2955G>T",
"hgvs_p": null,
"transcript": "ENST00000867276.1",
"protein_id": "ENSP00000537335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1224,
"cds_start": null,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867276.1"
},
{
"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": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "c.3562+4202G>T",
"hgvs_p": null,
"transcript": "ENST00000912930.1",
"protein_id": "ENSP00000582989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1204,
"cds_start": null,
"cds_end": null,
"cds_length": 3615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912930.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "n.3680G>T",
"hgvs_p": null,
"transcript": "NR_144323.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144323.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "n.3729G>T",
"hgvs_p": null,
"transcript": "NR_144324.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144324.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX29",
"gene_hgnc_id": 15815,
"hgvs_c": "n.3576G>T",
"hgvs_p": null,
"transcript": "NR_144325.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144325.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCNO-DT",
"gene_hgnc_id": 55543,
"hgvs_c": "n.129-16634C>A",
"hgvs_p": null,
"transcript": "ENST00000506435.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000506435.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCNO-DT",
"gene_hgnc_id": 55543,
"hgvs_c": "n.148-16634C>A",
"hgvs_p": null,
"transcript": "ENST00000749850.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000749850.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCNO-DT",
"gene_hgnc_id": 55543,
"hgvs_c": "n.107-16634C>A",
"hgvs_p": null,
"transcript": "ENST00000749851.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000749851.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCNO-DT",
"gene_hgnc_id": 55543,
"hgvs_c": "n.131-16634C>A",
"hgvs_p": null,
"transcript": "ENST00000749852.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000749852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCNO-DT",
"gene_hgnc_id": 55543,
"hgvs_c": "n.185-16634C>A",
"hgvs_p": null,
"transcript": "ENST00000749853.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000749853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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{
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{
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}
],
"message": null
}