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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: 17-74704696-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74704696&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74704696,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001289084.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "NM_139018.5",
"protein_id": "NP_620587.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 290,
"cds_start": 164,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326165.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139018.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000326165.11",
"protein_id": "ENSP00000327075.6",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 290,
"cds_start": 164,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139018.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326165.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "ENST00000464910.5",
"protein_id": "ENSP00000464257.1",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 293,
"cds_start": 173,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464910.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "ENST00000581500.1",
"protein_id": "ENSP00000464610.1",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 239,
"cds_start": 173,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581500.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "ENST00000469092.5",
"protein_id": "ENSP00000463743.1",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 194,
"cds_start": 173,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469092.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "n.173G>A",
"hgvs_p": null,
"transcript": "ENST00000462044.5",
"protein_id": "ENSP00000464223.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000462044.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000963433.1",
"protein_id": "ENSP00000633492.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 313,
"cds_start": 164,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963433.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000963432.1",
"protein_id": "ENSP00000633491.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 309,
"cds_start": 164,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963432.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000886268.1",
"protein_id": "ENSP00000556327.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 308,
"cds_start": 164,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886268.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "NM_001289084.2",
"protein_id": "NP_001276013.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 305,
"cds_start": 164,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289084.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000583937.5",
"protein_id": "ENSP00000462309.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 305,
"cds_start": 164,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583937.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000963430.1",
"protein_id": "ENSP00000633489.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 304,
"cds_start": 164,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963430.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "NM_001289085.2",
"protein_id": "NP_001276014.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 293,
"cds_start": 173,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289085.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000963431.1",
"protein_id": "ENSP00000633490.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 289,
"cds_start": 164,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963431.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "NM_001289083.2",
"protein_id": "NP_001276012.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 244,
"cds_start": 164,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289083.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "ENST00000301573.13",
"protein_id": "ENSP00000301573.9",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 244,
"cds_start": 164,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301573.13"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "NM_001289086.2",
"protein_id": "NP_001276015.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 239,
"cds_start": 173,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289086.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "NM_001289087.2",
"protein_id": "NP_001276016.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 221,
"cds_start": 164,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289087.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "NM_001289082.2",
"protein_id": "NP_001276011.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 194,
"cds_start": 173,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289082.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "XM_047435407.1",
"protein_id": "XP_047291363.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 338,
"cds_start": 173,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435407.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Gln",
"transcript": "XM_047435408.1",
"protein_id": "XP_047291364.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 335,
"cds_start": 164,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435408.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "XM_047435409.1",
"protein_id": "XP_047291365.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 335,
"cds_start": 173,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435409.1"
},
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}