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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: 2-96711707-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96711707&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96711707,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001142292.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.733C>A",
"hgvs_p": "p.Leu245Met",
"transcript": "NM_030805.4",
"protein_id": "NP_110432.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 348,
"cds_start": 733,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264963.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030805.4"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.733C>A",
"hgvs_p": "p.Leu245Met",
"transcript": "ENST00000264963.9",
"protein_id": "ENSP00000264963.4",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 348,
"cds_start": 733,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030805.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264963.9"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Leu256Met",
"transcript": "ENST00000377079.8",
"protein_id": "ENSP00000366280.4",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 359,
"cds_start": 766,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377079.8"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.772C>A",
"hgvs_p": "p.Leu258Met",
"transcript": "ENST00000970314.1",
"protein_id": "ENSP00000640373.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 361,
"cds_start": 772,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970314.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Leu256Met",
"transcript": "NM_001142292.2",
"protein_id": "NP_001135764.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 359,
"cds_start": 766,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142292.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.739C>A",
"hgvs_p": "p.Leu247Met",
"transcript": "ENST00000893541.1",
"protein_id": "ENSP00000563600.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 350,
"cds_start": 739,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893541.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.730C>A",
"hgvs_p": "p.Leu244Met",
"transcript": "ENST00000970312.1",
"protein_id": "ENSP00000640371.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 347,
"cds_start": 730,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970312.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Leu256Met",
"transcript": "ENST00000970313.1",
"protein_id": "ENSP00000640372.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"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": "ENST00000970313.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.661C>A",
"hgvs_p": "p.Leu221Met",
"transcript": "ENST00000970315.1",
"protein_id": "ENSP00000640374.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 324,
"cds_start": 661,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970315.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.733C>A",
"hgvs_p": "p.Leu245Met",
"transcript": "ENST00000920371.1",
"protein_id": "ENSP00000590430.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 320,
"cds_start": 733,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920371.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Leu210Met",
"transcript": "ENST00000893540.1",
"protein_id": "ENSP00000563599.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 313,
"cds_start": 628,
"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": "ENST00000893540.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.571C>A",
"hgvs_p": "p.Leu191Met",
"transcript": "ENST00000893542.1",
"protein_id": "ENSP00000563601.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 294,
"cds_start": 571,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893542.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Leu118Met",
"transcript": "NM_001322347.2",
"protein_id": "NP_001309276.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 221,
"cds_start": 352,
"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_001322347.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Leu118Met",
"transcript": "NM_001322352.2",
"protein_id": "NP_001309281.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 221,
"cds_start": 352,
"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_001322352.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Leu111Met",
"transcript": "NM_001322346.2",
"protein_id": "NP_001309275.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 214,
"cds_start": 331,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322346.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Leu111Met",
"transcript": "NM_001322354.2",
"protein_id": "NP_001309283.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 214,
"cds_start": 331,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322354.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.319C>A",
"hgvs_p": "p.Leu107Met",
"transcript": "NM_001322350.2",
"protein_id": "NP_001309279.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 210,
"cds_start": 319,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322350.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.298C>A",
"hgvs_p": "p.Leu100Met",
"transcript": "NM_001322351.2",
"protein_id": "NP_001309280.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 203,
"cds_start": 298,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322351.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.298C>A",
"hgvs_p": "p.Leu100Met",
"transcript": "NM_001322355.2",
"protein_id": "NP_001309284.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 203,
"cds_start": 298,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322355.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.298C>A",
"hgvs_p": "p.Leu100Met",
"transcript": "NM_001322356.2",
"protein_id": "NP_001309285.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 203,
"cds_start": 298,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322356.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "c.319C>A",
"hgvs_p": "p.Leu107Met",
"transcript": "XM_047445946.1",
"protein_id": "XP_047301902.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 210,
"cds_start": 319,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445946.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMAN2L",
"gene_hgnc_id": 19263,
"hgvs_c": "n.*490C>A",
"hgvs_p": null,
"transcript": "ENST00000434524.5",
"protein_id": "ENSP00000413533.1",
"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": "ENST00000434524.5"
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}