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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: 1-154602095-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154602095&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154602095,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000368474.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.547G>T",
"hgvs_p": "p.Gly183Cys",
"transcript": "NM_001111.5",
"protein_id": "NP_001102.3",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1226,
"cds_start": 547,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": "ENST00000368474.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.547G>T",
"hgvs_p": "p.Gly183Cys",
"transcript": "ENST00000368474.9",
"protein_id": "ENSP00000357459.4",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 1226,
"cds_start": 547,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": "NM_001111.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.-339G>T",
"hgvs_p": null,
"transcript": "ENST00000368471.8",
"protein_id": "ENSP00000357456.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 931,
"cds_start": -4,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.577G>T",
"hgvs_p": "p.Gly193Cys",
"transcript": "ENST00000649724.2",
"protein_id": "ENSP00000497932.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1236,
"cds_start": 577,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 6425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Gly192Cys",
"transcript": "NM_001365045.1",
"protein_id": "NP_001351974.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1235,
"cds_start": 574,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.547G>T",
"hgvs_p": "p.Gly183Cys",
"transcript": "ENST00000713626.1",
"protein_id": "ENSP00000518924.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1220,
"cds_start": 547,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 6972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.547G>T",
"hgvs_p": "p.Gly183Cys",
"transcript": "NM_015840.4",
"protein_id": "NP_056655.3",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 6532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.547G>T",
"hgvs_p": "p.Gly183Cys",
"transcript": "ENST00000529168.2",
"protein_id": "ENSP00000431794.2",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.577G>T",
"hgvs_p": "p.Gly193Cys",
"transcript": "ENST00000680270.2",
"protein_id": "ENSP00000505532.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1187,
"cds_start": 577,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.547G>T",
"hgvs_p": "p.Gly183Cys",
"transcript": "NM_015841.4",
"protein_id": "NP_056656.3",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1181,
"cds_start": 547,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 6475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.547G>T",
"hgvs_p": "p.Gly183Cys",
"transcript": "ENST00000680305.1",
"protein_id": "ENSP00000506312.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1165,
"cds_start": 547,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 6427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.199G>T",
"hgvs_p": "p.Gly67Cys",
"transcript": "ENST00000681056.2",
"protein_id": "ENSP00000506234.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1110,
"cds_start": 199,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 6450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Gly189Cys",
"transcript": "XM_011509062.2",
"protein_id": "XP_011507364.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 1232,
"cds_start": 565,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Gly192Cys",
"transcript": "XM_047428340.1",
"protein_id": "XP_047284296.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1209,
"cds_start": 574,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Gly189Cys",
"transcript": "XM_047428386.1",
"protein_id": "XP_047284342.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 1206,
"cds_start": 565,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.169G>T",
"hgvs_p": "p.Gly57Cys",
"transcript": "XM_047428405.1",
"protein_id": "XP_047284361.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1100,
"cds_start": 169,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.169G>T",
"hgvs_p": "p.Gly57Cys",
"transcript": "XM_047428441.1",
"protein_id": "XP_047284397.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1074,
"cds_start": 169,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 6154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.429G>T",
"hgvs_p": null,
"transcript": "ENST00000463920.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.277G>T",
"hgvs_p": null,
"transcript": "ENST00000647682.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 6777,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.547G>T",
"hgvs_p": null,
"transcript": "ENST00000648714.2",
"protein_id": "ENSP00000497434.2",
"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": 6832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.583G>T",
"hgvs_p": null,
"transcript": "ENST00000649021.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 7112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*147G>T",
"hgvs_p": null,
"transcript": "ENST00000649042.2",
"protein_id": "ENSP00000497790.2",
"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": 6285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.547G>T",
"hgvs_p": null,
"transcript": "ENST00000649408.2",
"protein_id": "ENSP00000497386.2",
"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,
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}