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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: 4-158170763-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=158170763&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 158170763,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001031700.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "NM_001128424.2",
"protein_id": "NP_001121896.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "ENST00000585682.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128424.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "ENST00000585682.6",
"protein_id": "ENSP00000465976.1",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "NM_001128424.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585682.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "ENST00000393807.9",
"protein_id": "ENSP00000377396.4",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 527,
"cds_start": 613,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 4544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393807.9"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "ENST00000296530.12",
"protein_id": "ENSP00000296530.7",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296530.12"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "NM_001031700.3",
"protein_id": "NP_001026870.2",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 527,
"cds_start": 613,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031700.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "NM_016613.7",
"protein_id": "NP_057697.2",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016613.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "ENST00000895447.1",
"protein_id": "ENSP00000565506.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895447.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "ENST00000895448.1",
"protein_id": "ENSP00000565507.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895448.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "ENST00000895449.1",
"protein_id": "ENSP00000565508.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 3406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895449.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "ENST00000959841.1",
"protein_id": "ENSP00000629900.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959841.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "ENST00000959842.1",
"protein_id": "ENSP00000629901.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959842.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "ENST00000959843.1",
"protein_id": "ENSP00000629902.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959843.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "ENST00000959844.1",
"protein_id": "ENSP00000629903.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 5463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959844.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "ENST00000592057.1",
"protein_id": "ENSP00000466873.1",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 331,
"cds_start": 613,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592057.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "XM_047415765.1",
"protein_id": "XP_047271721.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 527,
"cds_start": 613,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 4776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415765.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "XM_024454078.2",
"protein_id": "XP_024309846.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 4756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454078.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu",
"transcript": "XM_024454079.2",
"protein_id": "XP_024309847.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 519,
"cds_start": 613,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454079.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B-AS1",
"gene_hgnc_id": 53132,
"hgvs_c": "n.12T>G",
"hgvs_p": null,
"transcript": "ENST00000503611.5",
"protein_id": null,
"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": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000503611.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B-AS1",
"gene_hgnc_id": 53132,
"hgvs_c": "n.12T>G",
"hgvs_p": null,
"transcript": "NR_147407.1",
"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": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B-AS1",
"gene_hgnc_id": 53132,
"hgvs_c": "n.12T>G",
"hgvs_p": null,
"transcript": "NR_147408.1",
"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": 4812,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147408.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B-AS1",
"gene_hgnc_id": 53132,
"hgvs_c": "n.12T>G",
"hgvs_p": null,
"transcript": "NR_147409.1",
"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": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147409.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GASK1B-AS1",
"gene_hgnc_id": 53132,
"hgvs_c": "n.12T>G",
"hgvs_p": null,
"transcript": "NR_147410.1",
"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": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147410.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "GASK1B",
"gene_hgnc_id": 25312,
"hgvs_c": "n.156+2105A>C",
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"transcript": "ENST00000589306.1",
"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": 584,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000589306.1"
}
],
"gene_symbol": "GASK1B",
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"dbsnp": "rs371556909",
"frequency_reference_population": 6.840872e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84087e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3227883279323578,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.5022,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.319,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001031700.3",
"gene_symbol": "GASK1B",
"hgnc_id": 25312,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Ile205Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000503611.5",
"gene_symbol": "GASK1B-AS1",
"hgnc_id": 53132,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.12T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}