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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: 3-158122277-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=158122277&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 158122277,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001271838.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "NM_001271838.2",
"protein_id": "NP_001258767.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 334,
"cds_start": 173,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": "ENST00000611884.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000611884.5",
"protein_id": "ENSP00000481697.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 334,
"cds_start": 173,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": "NM_001271838.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000295930.7",
"protein_id": "ENSP00000295930.3",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 334,
"cds_start": 173,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000312179.10",
"protein_id": "ENSP00000308671.6",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 276,
"cds_start": 173,
"cds_end": null,
"cds_length": 831,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000683899.1",
"protein_id": "ENSP00000507514.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 342,
"cds_start": 173,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000476899.6",
"protein_id": "ENSP00000419394.2",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 336,
"cds_start": 173,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "NM_016625.4",
"protein_id": "NP_057709.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 334,
"cds_start": 173,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000480820.5",
"protein_id": "ENSP00000420150.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 334,
"cds_start": 173,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000482822.3",
"protein_id": "ENSP00000420464.3",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 314,
"cds_start": 173,
"cds_end": null,
"cds_length": 945,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000683137.1",
"protein_id": "ENSP00000507909.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 314,
"cds_start": 173,
"cds_end": null,
"cds_length": 945,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000682164.1",
"protein_id": "ENSP00000508394.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 311,
"cds_start": 173,
"cds_end": null,
"cds_length": 936,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000684604.1",
"protein_id": "ENSP00000507438.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 292,
"cds_start": 173,
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"cds_length": 879,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000475278.6",
"protein_id": "ENSP00000417816.2",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 283,
"cds_start": 173,
"cds_end": null,
"cds_length": 852,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "NM_001271834.2",
"protein_id": "NP_001258763.1",
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"aa_start": 58,
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"cds_start": 173,
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"cdna_start": 284,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000464171.5",
"protein_id": "ENSP00000419794.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 276,
"cds_start": 173,
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"cds_length": 831,
"cdna_start": 298,
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"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000471994.5",
"protein_id": "ENSP00000417302.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "ENST00000494002.5",
"protein_id": "ENSP00000417690.1",
"transcript_support_level": 2,
"aa_start": 58,
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"aa_length": 163,
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"cdna_start": 358,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "XM_047448275.1",
"protein_id": "XP_047304231.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 334,
"cds_start": 173,
"cds_end": null,
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"cdna_start": 401,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "XM_047448273.1",
"protein_id": "XP_047304229.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "XM_047448274.1",
"protein_id": "XP_047304230.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "n.250G>A",
"hgvs_p": null,
"transcript": "ENST00000468344.5",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "n.231G>A",
"hgvs_p": null,
"transcript": "ENST00000471911.5",
"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": 931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "n.122G>A",
"hgvs_p": null,
"transcript": "ENST00000477788.5",
"protein_id": "ENSP00000419054.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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}
],
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}