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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: 7-1744633-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=1744633&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 1744633,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001128636.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "NM_001128636.4",
"protein_id": "NP_001122108.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": "ENST00000424383.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128636.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000424383.5",
"protein_id": "ENSP00000456548.1",
"transcript_support_level": 5,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": "NM_001128636.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424383.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "NM_001394187.1",
"protein_id": "NP_001381116.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394187.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "NM_001394188.1",
"protein_id": "NP_001381117.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394188.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000561626.4",
"protein_id": "ENSP00000457193.1",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561626.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000691883.1",
"protein_id": "ENSP00000510296.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691883.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853552.1",
"protein_id": "ENSP00000523611.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853552.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853553.1",
"protein_id": "ENSP00000523612.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853553.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853554.1",
"protein_id": "ENSP00000523613.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853554.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853555.1",
"protein_id": "ENSP00000523614.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853555.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853556.1",
"protein_id": "ENSP00000523615.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853556.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853557.1",
"protein_id": "ENSP00000523616.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853557.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853558.1",
"protein_id": "ENSP00000523617.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853558.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853559.1",
"protein_id": "ENSP00000523618.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853559.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853560.1",
"protein_id": "ENSP00000523619.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853560.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853561.1",
"protein_id": "ENSP00000523620.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853561.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853562.1",
"protein_id": "ENSP00000523621.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853562.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853563.1",
"protein_id": "ENSP00000523622.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
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"cdna_start": 549,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853563.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853564.1",
"protein_id": "ENSP00000523623.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853564.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853565.1",
"protein_id": "ENSP00000523624.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853565.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000853566.1",
"protein_id": "ENSP00000523625.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853566.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000936129.1",
"protein_id": "ENSP00000606188.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 828,
"cds_start": 37,
"cds_end": null,
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