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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: 20-18481777-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=18481777&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 18481777,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000377603.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "c.840A>G",
"hgvs_p": "p.Thr280Thr",
"transcript": "NM_006466.4",
"protein_id": "NP_006457.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 316,
"cds_start": 840,
"cds_end": null,
"cds_length": 951,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": "ENST00000377603.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "c.840A>G",
"hgvs_p": "p.Thr280Thr",
"transcript": "ENST00000377603.5",
"protein_id": "ENSP00000366828.4",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 316,
"cds_start": 840,
"cds_end": null,
"cds_length": 951,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": "NM_006466.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "c.717A>G",
"hgvs_p": "p.Thr239Thr",
"transcript": "ENST00000462997.6",
"protein_id": "ENSP00000513375.1",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 717,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "c.936A>G",
"hgvs_p": "p.Thr312Thr",
"transcript": "ENST00000697647.1",
"protein_id": "ENSP00000513371.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 348,
"cds_start": 936,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Thr287Thr",
"transcript": "ENST00000697651.1",
"protein_id": "ENSP00000513374.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 323,
"cds_start": 861,
"cds_end": null,
"cds_length": 972,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "c.717A>G",
"hgvs_p": "p.Thr239Thr",
"transcript": "NM_001282526.2",
"protein_id": "NP_001269455.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 275,
"cds_start": 717,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "c.696A>G",
"hgvs_p": "p.Thr232Thr",
"transcript": "NM_001410821.1",
"protein_id": "NP_001397750.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 268,
"cds_start": 696,
"cds_end": null,
"cds_length": 807,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "c.696A>G",
"hgvs_p": "p.Thr232Thr",
"transcript": "ENST00000697649.1",
"protein_id": "ENSP00000513372.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 268,
"cds_start": 696,
"cds_end": null,
"cds_length": 807,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "c.588A>G",
"hgvs_p": "p.Thr196Thr",
"transcript": "ENST00000697652.1",
"protein_id": "ENSP00000513376.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 232,
"cds_start": 588,
"cds_end": null,
"cds_length": 699,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "c.588A>G",
"hgvs_p": "p.Thr196Thr",
"transcript": "ENST00000697658.1",
"protein_id": "ENSP00000513383.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 232,
"cds_start": 588,
"cds_end": null,
"cds_length": 699,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "c.588A>G",
"hgvs_p": "p.Thr196Thr",
"transcript": "XM_047439837.1",
"protein_id": "XP_047295793.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 232,
"cds_start": 588,
"cds_end": null,
"cds_length": 699,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.*230A>G",
"hgvs_p": null,
"transcript": "ENST00000697645.1",
"protein_id": "ENSP00000513370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.1407A>G",
"hgvs_p": null,
"transcript": "ENST00000697646.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.1563A>G",
"hgvs_p": null,
"transcript": "ENST00000697648.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.*230A>G",
"hgvs_p": null,
"transcript": "ENST00000697650.1",
"protein_id": "ENSP00000513373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.*718A>G",
"hgvs_p": null,
"transcript": "ENST00000697653.1",
"protein_id": "ENSP00000513378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.*828A>G",
"hgvs_p": null,
"transcript": "ENST00000697655.1",
"protein_id": "ENSP00000513380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.*122A>G",
"hgvs_p": null,
"transcript": "ENST00000697657.1",
"protein_id": "ENSP00000513382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.1015A>G",
"hgvs_p": null,
"transcript": "NR_104209.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.*230A>G",
"hgvs_p": null,
"transcript": "ENST00000697645.1",
"protein_id": "ENSP00000513370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.*230A>G",
"hgvs_p": null,
"transcript": "ENST00000697650.1",
"protein_id": "ENSP00000513373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.*718A>G",
"hgvs_p": null,
"transcript": "ENST00000697653.1",
"protein_id": "ENSP00000513378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"hgvs_c": "n.*828A>G",
"hgvs_p": null,
"transcript": "ENST00000697655.1",
"protein_id": "ENSP00000513380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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},
{
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},
{
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],
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},
{
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],
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},
{
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],
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{
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},
{
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"consequences": [
"downstream_gene_variant"
],
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"transcript": "XM_047439836.1",
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}
],
"gene_symbol": "POLR3F",
"gene_hgnc_id": 15763,
"dbsnp": "rs1055171",
"frequency_reference_population": 0.8641199,
"hom_count_reference_population": 603912,
"allele_count_reference_population": 1393898,
"gnomad_exomes_af": 0.867991,
"gnomad_genomes_af": 0.826917,
"gnomad_exomes_ac": 1268195,
"gnomad_genomes_ac": 125703,
"gnomad_exomes_homalt": 551655,
"gnomad_genomes_homalt": 52257,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.225,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000377603.5",
"gene_symbol": "POLR3F",
"hgnc_id": 15763,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.840A>G",
"hgvs_p": "p.Thr280Thr"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}