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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: 12-56155460-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56155460&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56155460,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002475.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "NM_002475.5",
"protein_id": "NP_002466.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695999.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002475.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000695999.1",
"protein_id": "ENSP00000512320.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002475.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695999.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000550443.5",
"protein_id": "ENSP00000446643.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550443.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Met139Val",
"transcript": "ENST00000696001.1",
"protein_id": "ENSP00000512322.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 217,
"cds_start": 415,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696001.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000873598.1",
"protein_id": "ENSP00000543657.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 211,
"cds_start": 388,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873598.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000912616.1",
"protein_id": "ENSP00000582675.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 211,
"cds_start": 388,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912616.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000912622.1",
"protein_id": "ENSP00000582681.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 211,
"cds_start": 388,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912622.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "NM_001199629.2",
"protein_id": "NP_001186558.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199629.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000553066.5",
"protein_id": "ENSP00000450385.1",
"transcript_support_level": 3,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553066.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000873595.1",
"protein_id": "ENSP00000543654.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873595.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000873596.1",
"protein_id": "ENSP00000543655.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873596.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000873597.1",
"protein_id": "ENSP00000543656.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873597.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000873599.1",
"protein_id": "ENSP00000543658.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873599.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000912612.1",
"protein_id": "ENSP00000582671.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912612.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000912615.1",
"protein_id": "ENSP00000582674.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912615.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000912618.1",
"protein_id": "ENSP00000582677.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912618.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000912619.1",
"protein_id": "ENSP00000582678.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912619.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000912623.1",
"protein_id": "ENSP00000582682.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912623.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000912624.1",
"protein_id": "ENSP00000582683.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 208,
"cds_start": 388,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912624.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000912610.1",
"protein_id": "ENSP00000582669.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 207,
"cds_start": 388,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912610.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.385A>G",
"hgvs_p": "p.Met129Val",
"transcript": "ENST00000912611.1",
"protein_id": "ENSP00000582670.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 207,
"cds_start": 385,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912611.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL6B",
"gene_hgnc_id": 29823,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000912613.1",
"protein_id": "ENSP00000582672.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 207,
"cds_start": 388,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912613.1"
},
{
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}
],
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}