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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: 17-74695789-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74695789&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74695789,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001289084.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Gln218Pro",
"transcript": "NM_139018.5",
"protein_id": "NP_620587.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 290,
"cds_start": 653,
"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": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Gln218Pro",
"transcript": "ENST00000326165.11",
"protein_id": "ENSP00000327075.6",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 290,
"cds_start": 653,
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.662A>C",
"hgvs_p": "p.Gln221Pro",
"transcript": "ENST00000464910.5",
"protein_id": "ENSP00000464257.1",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 293,
"cds_start": 662,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.684A>C",
"hgvs_p": "p.Ala228Ala",
"transcript": "ENST00000581500.1",
"protein_id": "ENSP00000464610.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 239,
"cds_start": 684,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.549A>C",
"hgvs_p": "p.Ala183Ala",
"transcript": "ENST00000469092.5",
"protein_id": "ENSP00000463743.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 194,
"cds_start": 549,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "n.*28A>C",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "n.*28A>C",
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.722A>C",
"hgvs_p": "p.Gln241Pro",
"transcript": "ENST00000963433.1",
"protein_id": "ENSP00000633492.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 313,
"cds_start": 722,
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.710A>C",
"hgvs_p": "p.Gln237Pro",
"transcript": "ENST00000963432.1",
"protein_id": "ENSP00000633491.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 309,
"cds_start": 710,
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.707A>C",
"hgvs_p": "p.Gln236Pro",
"transcript": "ENST00000886268.1",
"protein_id": "ENSP00000556327.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 308,
"cds_start": 707,
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.Gln233Pro",
"transcript": "NM_001289084.2",
"protein_id": "NP_001276013.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 305,
"cds_start": 698,
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.Gln233Pro",
"transcript": "ENST00000583937.5",
"protein_id": "ENSP00000462309.1",
"transcript_support_level": 2,
"aa_start": 233,
"aa_end": null,
"aa_length": 305,
"cds_start": 698,
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.695A>C",
"hgvs_p": "p.Gln232Pro",
"transcript": "ENST00000963430.1",
"protein_id": "ENSP00000633489.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 304,
"cds_start": 695,
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.662A>C",
"hgvs_p": "p.Gln221Pro",
"transcript": "NM_001289085.2",
"protein_id": "NP_001276014.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 293,
"cds_start": 662,
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.650A>C",
"hgvs_p": "p.Gln217Pro",
"transcript": "ENST00000963431.1",
"protein_id": "ENSP00000633490.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 289,
"cds_start": 650,
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.797A>C",
"hgvs_p": "p.Gln266Pro",
"transcript": "XM_047435407.1",
"protein_id": "XP_047291363.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 338,
"cds_start": 797,
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.788A>C",
"hgvs_p": "p.Gln263Pro",
"transcript": "XM_047435408.1",
"protein_id": "XP_047291364.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 335,
"cds_start": 788,
"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": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.788A>C",
"hgvs_p": "p.Gln263Pro",
"transcript": "XM_047435409.1",
"protein_id": "XP_047291365.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 335,
"cds_start": 788,
"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"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.785A>C",
"hgvs_p": "p.Gln262Pro",
"transcript": "XM_047435410.1",
"protein_id": "XP_047291366.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 334,
"cds_start": 785,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435410.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.776A>C",
"hgvs_p": "p.Gln259Pro",
"transcript": "XM_047435411.1",
"protein_id": "XP_047291367.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 331,
"cds_start": 776,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435411.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.740A>C",
"hgvs_p": "p.Gln247Pro",
"transcript": "XM_047435412.1",
"protein_id": "XP_047291368.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 319,
"cds_start": 740,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435412.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD300LF",
"gene_hgnc_id": 29883,
"hgvs_c": "c.731A>C",
"hgvs_p": "p.Gln244Pro",
"transcript": "XM_047435413.1",
"protein_id": "XP_047291369.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 316,
"cds_start": 731,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
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}