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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: 9-128122474-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128122474&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128122474,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_025072.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.893G>T",
"hgvs_p": "p.Arg298Leu",
"transcript": "NM_025072.7",
"protein_id": "NP_079348.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 377,
"cds_start": 893,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338961.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025072.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.893G>T",
"hgvs_p": "p.Arg298Leu",
"transcript": "ENST00000338961.11",
"protein_id": "ENSP00000345341.6",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 377,
"cds_start": 893,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025072.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338961.11"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.1064G>T",
"hgvs_p": "p.Arg355Leu",
"transcript": "ENST00000930205.1",
"protein_id": "ENSP00000600264.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 434,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930205.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.932G>T",
"hgvs_p": "p.Arg311Leu",
"transcript": "ENST00000930204.1",
"protein_id": "ENSP00000600263.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 390,
"cds_start": 932,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930204.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.899G>T",
"hgvs_p": "p.Arg300Leu",
"transcript": "ENST00000957708.1",
"protein_id": "ENSP00000627767.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 379,
"cds_start": 899,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957708.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.869G>T",
"hgvs_p": "p.Arg290Leu",
"transcript": "ENST00000678174.1",
"protein_id": "ENSP00000504703.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 369,
"cds_start": 869,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678174.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.743G>T",
"hgvs_p": "p.Arg248Leu",
"transcript": "ENST00000868346.1",
"protein_id": "ENSP00000538405.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 327,
"cds_start": 743,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868346.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.788G>T",
"hgvs_p": "p.Arg263Leu",
"transcript": "ENST00000449878.1",
"protein_id": "ENSP00000411378.1",
"transcript_support_level": 5,
"aa_start": 263,
"aa_end": null,
"aa_length": 264,
"cds_start": 788,
"cds_end": null,
"cds_length": 796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449878.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.320G>T",
"hgvs_p": "p.Arg107Leu",
"transcript": "NM_001256335.2",
"protein_id": "NP_001243264.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 186,
"cds_start": 320,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256335.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.320G>T",
"hgvs_p": "p.Arg107Leu",
"transcript": "NM_198938.3",
"protein_id": "NP_945176.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 186,
"cds_start": 320,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198938.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.320G>T",
"hgvs_p": "p.Arg107Leu",
"transcript": "ENST00000277462.9",
"protein_id": "ENSP00000277462.5",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 186,
"cds_start": 320,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277462.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.320G>T",
"hgvs_p": "p.Arg107Leu",
"transcript": "ENST00000617202.4",
"protein_id": "ENSP00000482913.1",
"transcript_support_level": 5,
"aa_start": 107,
"aa_end": null,
"aa_length": 186,
"cds_start": 320,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617202.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.320G>T",
"hgvs_p": "p.Arg107Leu",
"transcript": "ENST00000677691.1",
"protein_id": "ENSP00000503821.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 186,
"cds_start": 320,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677691.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.320G>T",
"hgvs_p": "p.Arg107Leu",
"transcript": "XM_011519050.2",
"protein_id": "XP_011517352.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 186,
"cds_start": 320,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519050.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "c.320G>T",
"hgvs_p": "p.Arg107Leu",
"transcript": "XM_024447688.2",
"protein_id": "XP_024303456.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 186,
"cds_start": 320,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447688.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "n.*316G>T",
"hgvs_p": null,
"transcript": "ENST00000474124.6",
"protein_id": "ENSP00000503197.1",
"transcript_support_level": 5,
"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": "ENST00000474124.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "n.1590G>T",
"hgvs_p": null,
"transcript": "ENST00000476655.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000476655.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "n.1365G>T",
"hgvs_p": null,
"transcript": "ENST00000483625.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000483625.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "n.610G>T",
"hgvs_p": null,
"transcript": "ENST00000487063.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000487063.5"
},
{
"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": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "n.2803G>T",
"hgvs_p": null,
"transcript": "ENST00000493205.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000493205.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "n.1440G>T",
"hgvs_p": null,
"transcript": "ENST00000496594.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000496594.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES2",
"gene_hgnc_id": 17822,
"hgvs_c": "n.1358G>T",
"hgvs_p": null,
"transcript": "ENST00000497109.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000497109.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"consequences": [
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}
],
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}