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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: 17-78117873-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78117873&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78117873,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_007267.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "NM_001127198.5",
"protein_id": "NP_001120670.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000590602.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127198.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000590602.6",
"protein_id": "ENSP00000465261.1",
"transcript_support_level": 2,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127198.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590602.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000322914.7",
"protein_id": "ENSP00000313408.2",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322914.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000392467.7",
"protein_id": "ENSP00000376260.2",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392467.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000893492.1",
"protein_id": "ENSP00000563551.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 853,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893492.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1962C>T",
"hgvs_p": "p.Thr654Thr",
"transcript": "ENST00000893468.1",
"protein_id": "ENSP00000563527.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 809,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893468.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1962C>T",
"hgvs_p": "p.Thr654Thr",
"transcript": "ENST00000893485.1",
"protein_id": "ENSP00000563544.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 809,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893485.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1962C>T",
"hgvs_p": "p.Thr654Thr",
"transcript": "ENST00000922743.1",
"protein_id": "ENSP00000592802.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 809,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922743.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "NM_001321185.1",
"protein_id": "NP_001308114.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321185.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "NM_001374596.1",
"protein_id": "NP_001361525.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374596.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "NM_001375353.1",
"protein_id": "NP_001362282.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375353.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "NM_001375354.1",
"protein_id": "NP_001362283.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375354.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "NM_007267.7",
"protein_id": "NP_009198.4",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007267.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000589271.6",
"protein_id": "ENSP00000468255.2",
"transcript_support_level": 5,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589271.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000592063.6",
"protein_id": "ENSP00000466885.2",
"transcript_support_level": 5,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592063.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000698550.1",
"protein_id": "ENSP00000513793.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698550.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000893453.1",
"protein_id": "ENSP00000563512.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893453.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000893454.1",
"protein_id": "ENSP00000563513.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893454.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000893455.1",
"protein_id": "ENSP00000563514.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893455.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000893460.1",
"protein_id": "ENSP00000563519.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893460.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000893481.1",
"protein_id": "ENSP00000563540.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893481.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000893491.1",
"protein_id": "ENSP00000563550.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 805,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
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{
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{
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{
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{
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"gene_symbol": "TMC6",
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"transcript": "ENST00000698551.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698551.1"
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],
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"dbsnp": "rs2613516",
"frequency_reference_population": 0.14937441,
"hom_count_reference_population": 18870,
"allele_count_reference_population": 239941,
"gnomad_exomes_af": 0.15292,
"gnomad_genomes_af": 0.115506,
"gnomad_exomes_ac": 222358,
"gnomad_genomes_ac": 17583,
"gnomad_exomes_homalt": 17575,
"gnomad_genomes_homalt": 1295,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"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": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.093,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_007267.7",
"gene_symbol": "TMC6",
"hgnc_id": 18021,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Thr650Thr"
}
],
"clinvar_disease": "Epidermodysplasia verruciformis,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4 O:1",
"phenotype_combined": "Epidermodysplasia verruciformis|not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}